Canonical Allele Identifier: CA2320322

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 259996
• ClinVar RCV Id: RCV000249220 ; RCV001807172 ; RCV001513526 ; RCV002321929
• dbSNP Id: rs6795970
• ExAC: 3:38766675 A / G
• gnomAD v2: 3-38766675-A-G
• gnomAD v3: 3-38725184-A-G
• gnomAD v4: 3-38725184-A-G
• MyVariant Identifiers: chr3:g.38766675A>G (hg19) ; chr3:g.38725184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725184A>G , CM000665.2:g.38725184A>G	GRCh38
NC_000003.11:g.38766675A>G , CM000665.1:g.38766675A>G	GRCh37
NC_000003.10:g.38741679A>G	NCBI36
NG_031891.2:g.73827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3218T>C MANE Select	ENSP00000390600.2:p.Val1073Ala
ENST00000643924.1:c.3215T>C	ENSP00000495595.1:p.Val1072Ala
ENST00000655275.1:c.3242T>C	ENSP00000499510.1:p.Val1081Ala
ENST00000449082.2:c.3218T>C	ENSP00000390600.2:p.Val1073Ala
NM_001293306.2:c.3215T>C	NP_001280235.2:p.Val1072Ala
NM_001293307.2:c.2924T>C	NP_001280236.2:p.Val975Ala
NM_006514.3:c.3218T>C	NP_006505.3:p.Val1073Ala
XM_005265371.2:c.3227T>C	XP_005265428.1:p.Val1076Ala
XM_011533993.1:c.3224T>C	XP_011532295.1:p.Val1075Ala
XM_011533994.1:c.2933T>C	XP_011532296.1:p.Val978Ala
XM_005265371.3:c.3227T>C	XP_005265428.1:p.Val1076Ala
XM_011533993.2:c.3224T>C	XP_011532295.1:p.Val1075Ala
XM_011533994.2:c.2933T>C	XP_011532296.1:p.Val978Ala
NM_006514.4:c.3218T>C MANE Select	NP_006505.4:p.Val1073Ala