Canonical Allele Identifier: CA352156611

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766684A>G (hg19) ; chr3:g.38725193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725193A>G , CM000665.2:g.38725193A>G	GRCh38
NC_000003.11:g.38766684A>G , CM000665.1:g.38766684A>G	GRCh37
NC_000003.10:g.38741688A>G	NCBI36
NG_031891.2:g.73818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3209T>C MANE Select	ENSP00000390600.2:p.Val1070Ala
ENST00000643924.1:c.3206T>C	ENSP00000495595.1:p.Val1069Ala
ENST00000655275.1:c.3233T>C	ENSP00000499510.1:p.Val1078Ala
ENST00000449082.2:c.3209T>C	ENSP00000390600.2:p.Val1070Ala
NM_001293306.2:c.3206T>C	NP_001280235.2:p.Val1069Ala
NM_001293307.2:c.2915T>C	NP_001280236.2:p.Val972Ala
NM_006514.3:c.3209T>C	NP_006505.3:p.Val1070Ala
XM_005265371.2:c.3218T>C	XP_005265428.1:p.Val1073Ala
XM_011533993.1:c.3215T>C	XP_011532295.1:p.Val1072Ala
XM_011533994.1:c.2924T>C	XP_011532296.1:p.Val975Ala
XM_005265371.3:c.3218T>C	XP_005265428.1:p.Val1073Ala
XM_011533993.2:c.3215T>C	XP_011532295.1:p.Val1072Ala
XM_011533994.2:c.2924T>C	XP_011532296.1:p.Val975Ala
NM_006514.4:c.3209T>C MANE Select	NP_006505.4:p.Val1070Ala