Canonical Allele Identifier: CA352167215

Gene: SCN10A

Linked Data

• COSMIC: COSM3593602
• MyVariant Identifiers: chr3:g.38793780G>A (hg19) ; chr3:g.38752289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752289G>A , CM000665.2:g.38752289G>A	GRCh38
NC_000003.11:g.38793780G>A , CM000665.1:g.38793780G>A	GRCh37
NC_000003.10:g.38768784G>A	NCBI36
NG_031891.2:g.46722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1685C>T MANE Select	ENSP00000390600.2:p.Ser562Phe
ENST00000643924.1:c.1685C>T	ENSP00000495595.1:p.Ser562Phe
ENST00000655275.1:c.1712C>T	ENSP00000499510.1:p.Ser571Phe
ENST00000449082.2:c.1685C>T	ENSP00000390600.2:p.Ser562Phe
NM_001293306.2:c.1685C>T	NP_001280235.2:p.Ser562Phe
NM_001293307.2:c.1462-2105C>T	NP_001280236.2:n.1462-2105C>T
NM_006514.3:c.1685C>T	NP_006505.3:p.Ser562Phe
XM_005265371.2:c.1694C>T	XP_005265428.1:p.Ser565Phe
XM_011533993.1:c.1694C>T	XP_011532295.1:p.Ser565Phe
XM_011533994.1:c.1471-2105C>T	XP_011532296.1:n.1471-2105C>T
XM_005265371.3:c.1694C>T	XP_005265428.1:p.Ser565Phe
XM_011533993.2:c.1694C>T	XP_011532295.1:p.Ser565Phe
XM_011533994.2:c.1471-2105C>T	XP_011532296.1:n.1471-2105C>T
NM_006514.4:c.1685C>T MANE Select	NP_006505.4:p.Ser562Phe