Canonical Allele Identifier: CA352167637

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 848358
• ClinVar RCV Id: RCV001052099
• dbSNP Id: rs2063759462
• MyVariant Identifiers: chr3:g.38793946A>G (hg19) ; chr3:g.38752455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752455A>G , CM000665.2:g.38752455A>G	GRCh38
NC_000003.11:g.38793946A>G , CM000665.1:g.38793946A>G	GRCh37
NC_000003.10:g.38768950A>G	NCBI36
NG_031891.2:g.46556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1519T>C MANE Select	ENSP00000390600.2:p.Phe507Leu
ENST00000643924.1:c.1519T>C	ENSP00000495595.1:p.Phe507Leu
ENST00000655275.1:c.1546T>C	ENSP00000499510.1:p.Phe516Leu
ENST00000449082.2:c.1519T>C	ENSP00000390600.2:p.Phe507Leu
NM_001293306.2:c.1519T>C	NP_001280235.2:p.Phe507Leu
NM_001293307.2:c.1462-2271T>C	NP_001280236.2:n.1462-2271T>C
NM_006514.3:c.1519T>C	NP_006505.3:p.Phe507Leu
XM_005265371.2:c.1528T>C	XP_005265428.1:p.Phe510Leu
XM_011533993.1:c.1528T>C	XP_011532295.1:p.Phe510Leu
XM_011533994.1:c.1471-2271T>C	XP_011532296.1:n.1471-2271T>C
XM_005265371.3:c.1528T>C	XP_005265428.1:p.Phe510Leu
XM_011533993.2:c.1528T>C	XP_011532295.1:p.Phe510Leu
XM_011533994.2:c.1471-2271T>C	XP_011532296.1:n.1471-2271T>C
NM_006514.4:c.1519T>C MANE Select	NP_006505.4:p.Phe507Leu