Canonical Allele Identifier: CA8486202

Gene: NF1

Linked Data

• ClinVar Variation Id: 231172
• ClinVar RCV Id: RCV000215263 ; RCV000228654 ; RCV001571808
• dbSNP Id: rs151293900
• ExAC: 17:29560195 G / A
• gnomAD v2: 17-29560195-G-A
• gnomAD v3: 17-31233177-G-A
• gnomAD v4: 17-31233177-G-A
• MyVariant Identifiers: chr17:g.29560195G>A (hg19) ; chr17:g.31233177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233177G>A , CM000679.2:g.31233177G>A	GRCh38
NC_000017.10:g.29560195G>A , CM000679.1:g.29560195G>A	GRCh37
NC_000017.9:g.26584321G>A	NCBI36
NG_009018.1:g.143201G>A , LRG_214:g.143201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3717G>A	ENSP00000512431.1:p.Ala1239=
ENST00000696139.1:c.1017G>A	ENSP00000512432.1:p.Ala339=
ENST00000691014.1:c.3702G>A	ENSP00000510595.1:p.Ala1234=
ENST00000693210.1:n.398G>A
ENST00000358273.9:c.3672G>A MANE Select	ENSP00000351015.4:p.Ala1224=
ENST00000356175.7:c.3672G>A	ENSP00000348498.3:p.Ala1224=
ENST00000358273.8:c.3672G>A	ENSP00000351015.4:p.Ala1224=
ENST00000456735.6:c.2670G>A	ENSP00000389907.2:p.Ala890=
ENST00000466819.5:c.148G>A
ENST00000479614.1:c.148G>A
ENST00000493220.5:n.2208G>A
ENST00000495910.6:c.3447G>A
ENST00000579081.5:c.3774G>A	ENSP00000462408.1:p.Ala1258=
NM_000267.3:c.3672G>A , LRG_214t1:c.3672G>A	NP_000258.1:p.Ala1224=
NM_001042492.2:c.3672G>A , LRG_214t2:c.3672G>A	NP_001035957.1:p.Ala1224=
XM_005257983.1:c.3672G>A	XP_005258040.1:p.Ala1224=
XM_005257984.1:c.3672G>A	XP_005258041.1:p.Ala1224=
XM_006721922.1:c.3702G>A	XP_006721985.1:p.Ala1234=
XM_006721923.2:c.3663G>A	XP_006721986.1:p.Ala1221=
XM_006721924.1:c.3702G>A	XP_006721987.1:p.Ala1234=
XM_006721925.1:c.3702G>A	XP_006721988.1:p.Ala1234=
XM_006721926.2:c.3702G>A	XP_006721989.1:p.Ala1234=
XM_006721927.1:c.3702G>A	XP_006721990.1:p.Ala1234=
XM_006721928.2:c.3702G>A	XP_006721991.1:p.Ala1234=
XM_011524852.1:c.3699G>A	XP_011523154.1:p.Ala1233=
XM_011524853.1:c.3663G>A	XP_011523155.1:p.Ala1221=
XM_011524854.1:c.3663G>A	XP_011523156.1:p.Ala1221=
XM_011524855.1:c.3663G>A	XP_011523157.1:p.Ala1221=
XM_011524856.1:c.3663G>A	XP_011523158.1:p.Ala1221=
XM_011524857.1:c.3702G>A	XP_011523159.1:p.Ala1234=
NM_001042492.3:c.3672G>A MANE Select	NP_001035957.1:p.Ala1224=