Canonical Allele Identifier: CA2259426

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs374044897
• ExAC: 3:12626433 C / G
• gnomAD v2: 3-12626433-C-G
• gnomAD v3: 3-12584934-C-G
• gnomAD v4: 3-12584934-C-G
• MyVariant Identifiers: chr3:g.12626433C>G (hg19) ; chr3:g.12584934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584934C>G , CM000665.2:g.12584934C>G	GRCh38
NC_000003.11:g.12626433C>G , CM000665.1:g.12626433C>G	GRCh37
NC_000003.10:g.12601433C>G	NCBI36
NG_007467.1:g.84246G>C , LRG_413:g.84246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1381G>C (RAF1)	ENSP00000401088.1:n.*1381G>C
ENST00000432427.3:c.1033G>C (RAF1)
ENST00000460610.2:n.6028G>C (RAF1)
ENST00000471449.2:n.526G>C (RAF1)
ENST00000475353.2:n.3996G>C (RAF1)
ENST00000684903.1:c.*1393G>C (RAF1)	ENSP00000508612.1:n.*1393G>C
ENST00000685348.1:c.*1427G>C (RAF1)	ENSP00000510285.1:n.*1427G>C
ENST00000685437.1:c.1617G>C (RAF1)	ENSP00000508794.1:p.Lys539Asn
ENST00000685653.1:c.1716G>C (RAF1)	ENSP00000509968.1:p.Lys572Asn
ENST00000685697.1:n.2451G>C (RAF1)
ENST00000685738.1:c.*680G>C (RAF1)	ENSP00000510156.1:n.*680G>C
ENST00000686409.1:n.5125G>C (RAF1)
ENST00000686455.1:n.4437G>C (RAF1)
ENST00000686762.1:c.*275G>C (RAF1)	ENSP00000509767.1:n.*275G>C
ENST00000687257.1:n.4170G>C (RAF1)
ENST00000687326.1:c.*3008G>C (RAF1)	ENSP00000509665.1:n.*3008G>C
ENST00000687505.1:n.1834G>C (RAF1)
ENST00000687923.1:c.1605G>C (RAF1)	ENSP00000510255.1:p.Lys535Asn
ENST00000688269.1:n.2312G>C (RAF1)
ENST00000688444.1:n.3833G>C (RAF1)
ENST00000688543.1:c.1617G>C (RAF1)	ENSP00000509612.1:p.Lys539Asn
ENST00000688625.1:c.*3085G>C (RAF1)	ENSP00000509522.1:n.*3085G>C
ENST00000688803.1:n.3144G>C (RAF1)
ENST00000688914.1:n.1129G>C (RAF1)
ENST00000689097.1:c.*1393G>C (RAF1)	ENSP00000509756.1:n.*1393G>C
ENST00000689389.1:c.1539G>C (RAF1)	ENSP00000510213.1:p.Lys513Asn
ENST00000689418.1:c.*3611G>C (RAF1)	ENSP00000509467.1:n.*3611G>C
ENST00000689540.1:n.4084G>C (RAF1)
ENST00000689876.1:c.*265G>C (RAF1)	ENSP00000508535.1:n.*265G>C
ENST00000689914.1:c.*650G>C (RAF1)	ENSP00000509847.1:n.*650G>C
ENST00000690397.1:c.1605G>C (RAF1)	ENSP00000508730.1:p.Lys535Asn
ENST00000690460.1:c.1704G>C (RAF1)	ENSP00000509106.1:p.Lys568Asn
ENST00000690585.1:c.442G>C (RAF1)
ENST00000690625.1:n.2752G>C (RAF1)
ENST00000691396.1:c.*1588G>C (RAF1)	ENSP00000510712.1:n.*1588G>C
ENST00000691643.1:n.2769G>C (RAF1)
ENST00000691724.1:c.*673G>C (RAF1)	ENSP00000509255.1:n.*673G>C
ENST00000691779.1:c.*1294G>C (RAF1)	ENSP00000508592.1:n.*1294G>C
ENST00000691888.1:c.590G>C (RAF1)
ENST00000691899.1:c.1716G>C (RAF1)	ENSP00000508763.1:p.Lys572Asn
ENST00000692069.1:n.4640G>C (RAF1)
ENST00000692093.1:c.1617G>C (RAF1)	ENSP00000509669.1:p.Lys539Asn
ENST00000692311.1:n.2540G>C (RAF1)
ENST00000692558.1:n.4299G>C (RAF1)
ENST00000692773.1:c.*1453G>C (RAF1)	ENSP00000509055.1:n.*1453G>C
ENST00000692830.1:c.*1461G>C (RAF1)	ENSP00000509461.1:n.*1461G>C
ENST00000693312.1:c.1491G>C (RAF1)	ENSP00000508686.1:p.Lys497Asn
ENST00000693664.1:c.*167G>C (RAF1)	ENSP00000509614.1:n.*167G>C
ENST00000693705.1:c.*1095G>C (RAF1)	ENSP00000510697.1:n.*1095G>C
ENST00000251849.9:c.1716G>C (RAF1) MANE Select	ENSP00000251849.4:p.Lys572Asn
ENST00000442415.7:c.1776G>C (RAF1)	ENSP00000401888.2:p.Lys592Asn
ENST00000676541.1:c.*2681C>G (MKRN2)	ENSP00000503730.1:n.*2681C>G
ENST00000677142.1:c.*2681C>G (MKRN2)	ENSP00000504455.1:n.*2681C>G
ENST00000677816.1:c.*1236C>G (MKRN2)	ENSP00000502893.1:n.*1236C>G
ENST00000677941.1:n.2744C>G (MKRN2)
ENST00000251849.8:c.1716G>C (RAF1)	ENSP00000251849.4:p.Lys572Asn
ENST00000423275.5:c.*1393G>C (RAF1)	ENSP00000401088.1:n.*1393G>C
ENST00000432427.2:c.1353G>C (RAF1)	ENSP00000398591.2:p.Lys451Asn
ENST00000442415.6:c.1776G>C (RAF1)	ENSP00000401888.2:p.Lys592Asn
ENST00000471449.1:n.405G>C (RAF1)
NM_002880.3:c.1716G>C , LRG_413t1:c.1716G>C (RAF1)	NP_002871.1:p.Lys572Asn
XM_005265355.1:c.1716G>C (RAF1)	XP_005265412.1:p.Lys572Asn
XM_005265357.1:c.1617G>C (RAF1)	XP_005265414.1:p.Lys539Asn
XM_005265358.3:c.1473G>C (RAF1)	XP_005265415.1:p.Lys491Asn
XM_005265359.3:c.1374G>C (RAF1)	XP_005265416.1:p.Lys458Asn
XM_011533974.1:c.1716G>C (RAF1)	XP_011532276.1:p.Lys572Asn
XM_011533975.1:c.1473G>C (RAF1)	XP_011532277.1:p.Lys491Asn
NM_001354689.1:c.1776G>C (RAF1)	NP_001341618.1:p.Lys592Asn
NM_001354690.1:c.1716G>C (RAF1)	NP_001341619.1:p.Lys572Asn
NM_001354691.1:c.1473G>C (RAF1)	NP_001341620.1:p.Lys491Asn
NM_001354692.1:c.1473G>C (RAF1)	NP_001341621.1:p.Lys491Asn
NM_001354693.1:c.1617G>C (RAF1)	NP_001341622.1:p.Lys539Asn
NM_001354694.1:c.1533G>C (RAF1)	NP_001341623.1:p.Lys511Asn
NM_001354695.1:c.1374G>C (RAF1)	NP_001341624.1:p.Lys458Asn
NR_148940.1:n.2244G>C (RAF1)
NR_148941.1:n.2190G>C (RAF1)
NR_148942.1:n.2129G>C (RAF1)
XM_011533974.3:c.1716G>C (RAF1)	XP_011532276.1:p.Lys572Asn
XM_017006966.1:c.1617G>C (RAF1)	XP_016862455.1:p.Lys539Asn
NM_001354689.3:c.1776G>C (RAF1)	NP_001341618.1:p.Lys592Asn
NM_001354690.2:c.1716G>C (RAF1)	NP_001341619.1:p.Lys572Asn
NM_001354691.2:c.1473G>C (RAF1)	NP_001341620.1:p.Lys491Asn
NM_001354692.2:c.1473G>C (RAF1)	NP_001341621.1:p.Lys491Asn
NM_001354693.2:c.1617G>C (RAF1)	NP_001341622.1:p.Lys539Asn
NM_001354694.2:c.1533G>C (RAF1)	NP_001341623.1:p.Lys511Asn
NM_001354695.2:c.1374G>C (RAF1)	NP_001341624.1:p.Lys458Asn
NR_148940.2:n.2160G>C (RAF1)
NR_148941.2:n.2106G>C (RAF1)
NR_148942.2:n.2045G>C (RAF1)
NM_001354690.3:c.1716G>C (RAF1)	NP_001341619.1:p.Lys572Asn
NM_001354691.3:c.1473G>C (RAF1)	NP_001341620.1:p.Lys491Asn
NM_001354692.3:c.1473G>C (RAF1)	NP_001341621.1:p.Lys491Asn
NM_001354693.3:c.1617G>C (RAF1)	NP_001341622.1:p.Lys539Asn
NM_001354694.3:c.1533G>C (RAF1)	NP_001341623.1:p.Lys511Asn
NM_001354695.3:c.1374G>C (RAF1)	NP_001341624.1:p.Lys458Asn
NM_002880.4:c.1716G>C (RAF1) MANE Select	NP_002871.1:p.Lys572Asn
NR_148940.3:n.2160G>C (RAF1)
NR_148941.3:n.2106G>C (RAF1)
NR_148942.3:n.2045G>C (RAF1)