Canonical Allele Identifier: CA8486477

Gene: NF1

Linked Data

• ClinVar Variation Id: 825154
• ClinVar RCV Id: RCV001459109 ; RCV002319370
• dbSNP Id: rs552732964
• ExAC: 17:29592352 A / G
• gnomAD v2: 17-29592352-A-G
• gnomAD v3: 17-31265334-A-G
• gnomAD v4: 17-31265334-A-G
• MyVariant Identifiers: chr17:g.29592352A>G (hg19) ; chr17:g.31265334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265334A>G , CM000679.2:g.31265334A>G	GRCh38
NC_000017.10:g.29592352A>G , CM000679.1:g.29592352A>G	GRCh37
NC_000017.9:g.26616478A>G	NCBI36
NG_009018.1:g.175358A>G , LRG_214:g.175358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.632A>G	ENSP00000492721.2:n.632A>G
ENST00000696138.1:c.4812A>G	ENSP00000512431.1:p.Ala1604=
ENST00000696140.1:n.936A>G
ENST00000696141.1:c.821A>G
ENST00000687863.1:n.1475A>G
ENST00000691014.1:c.4860A>G	ENSP00000510595.1:p.Ala1620=
ENST00000358273.9:c.4830A>G MANE Select	ENSP00000351015.4:p.Ala1610=
ENST00000356175.7:c.4767A>G	ENSP00000348498.3:p.Ala1589=
ENST00000358273.8:c.4830A>G	ENSP00000351015.4:p.Ala1610=
ENST00000456735.6:c.3765A>G	ENSP00000389907.2:p.Ala1255=
ENST00000493220.5:n.3303A>G
ENST00000579081.5:c.4869A>G	ENSP00000462408.1:p.Ala1623=
NM_000267.3:c.4767A>G , LRG_214t1:c.4767A>G	NP_000258.1:p.Ala1589=
NM_001042492.2:c.4830A>G , LRG_214t2:c.4830A>G	NP_001035957.1:p.Ala1610=
XM_005257983.1:c.4830A>G	XP_005258040.1:p.Ala1610=
XM_005257984.1:c.4767A>G	XP_005258041.1:p.Ala1589=
XM_006721922.1:c.4860A>G	XP_006721985.1:p.Ala1620=
XM_006721923.2:c.4821A>G	XP_006721986.1:p.Ala1607=
XM_006721924.1:c.4860A>G	XP_006721987.1:p.Ala1620=
XM_006721925.1:c.4797A>G	XP_006721988.1:p.Ala1599=
XM_006721926.2:c.4860A>G	XP_006721989.1:p.Ala1620=
XM_006721927.1:c.4860A>G	XP_006721990.1:p.Ala1620=
XM_006721928.2:c.4860A>G	XP_006721991.1:p.Ala1620=
XM_011524852.1:c.4857A>G	XP_011523154.1:p.Ala1619=
XM_011524853.1:c.4821A>G	XP_011523155.1:p.Ala1607=
XM_011524854.1:c.4821A>G	XP_011523156.1:p.Ala1607=
XM_011524855.1:c.4821A>G	XP_011523157.1:p.Ala1607=
XM_011524856.1:c.4821A>G	XP_011523158.1:p.Ala1607=
XM_011524857.1:c.4860A>G	XP_011523159.1:p.Ala1620=
NM_001042492.3:c.4830A>G MANE Select	NP_001035957.1:p.Ala1610=