Canonical Allele Identifier: CA352156635

Gene: SCN10A

Linked Data

• COSMIC: COSM323218
• MyVariant Identifiers: chr3:g.38766694C>G (hg19) ; chr3:g.38725203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725203C>G , CM000665.2:g.38725203C>G	GRCh38
NC_000003.11:g.38766694C>G , CM000665.1:g.38766694C>G	GRCh37
NC_000003.10:g.38741698C>G	NCBI36
NG_031891.2:g.73808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3199G>C MANE Select	ENSP00000390600.2:p.Asp1067His
ENST00000643924.1:c.3196G>C	ENSP00000495595.1:p.Asp1066His
ENST00000655275.1:c.3223G>C	ENSP00000499510.1:p.Asp1075His
ENST00000449082.2:c.3199G>C	ENSP00000390600.2:p.Asp1067His
NM_001293306.2:c.3196G>C	NP_001280235.2:p.Asp1066His
NM_001293307.2:c.2905G>C	NP_001280236.2:p.Asp969His
NM_006514.3:c.3199G>C	NP_006505.3:p.Asp1067His
XM_005265371.2:c.3208G>C	XP_005265428.1:p.Asp1070His
XM_011533993.1:c.3205G>C	XP_011532295.1:p.Asp1069His
XM_011533994.1:c.2914G>C	XP_011532296.1:p.Asp972His
XM_005265371.3:c.3208G>C	XP_005265428.1:p.Asp1070His
XM_011533993.2:c.3205G>C	XP_011532295.1:p.Asp1069His
XM_011533994.2:c.2914G>C	XP_011532296.1:p.Asp972His
NM_006514.4:c.3199G>C MANE Select	NP_006505.4:p.Asp1067His