Canonical Allele Identifier: CA352156692

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766724G>C (hg19) ; chr3:g.38725233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725233G>C , CM000665.2:g.38725233G>C	GRCh38
NC_000003.11:g.38766724G>C , CM000665.1:g.38766724G>C	GRCh37
NC_000003.10:g.38741728G>C	NCBI36
NG_031891.2:g.73778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3169C>G MANE Select	ENSP00000390600.2:p.Leu1057Val
ENST00000643924.1:c.3166C>G	ENSP00000495595.1:p.Leu1056Val
ENST00000655275.1:c.3193C>G	ENSP00000499510.1:p.Leu1065Val
ENST00000449082.2:c.3169C>G	ENSP00000390600.2:p.Leu1057Val
NM_001293306.2:c.3166C>G	NP_001280235.2:p.Leu1056Val
NM_001293307.2:c.2875C>G	NP_001280236.2:p.Leu959Val
NM_006514.3:c.3169C>G	NP_006505.3:p.Leu1057Val
XM_005265371.2:c.3178C>G	XP_005265428.1:p.Leu1060Val
XM_011533993.1:c.3175C>G	XP_011532295.1:p.Leu1059Val
XM_011533994.1:c.2884C>G	XP_011532296.1:p.Leu962Val
XM_005265371.3:c.3178C>G	XP_005265428.1:p.Leu1060Val
XM_011533993.2:c.3175C>G	XP_011532295.1:p.Leu1059Val
XM_011533994.2:c.2884C>G	XP_011532296.1:p.Leu962Val
NM_006514.4:c.3169C>G MANE Select	NP_006505.4:p.Leu1057Val