Canonical Allele Identifier: CA352156704

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725238-T-C
• MyVariant Identifiers: chr3:g.38766729T>C (hg19) ; chr3:g.38725238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725238T>C , CM000665.2:g.38725238T>C	GRCh38
NC_000003.11:g.38766729T>C , CM000665.1:g.38766729T>C	GRCh37
NC_000003.10:g.38741733T>C	NCBI36
NG_031891.2:g.73773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3164A>G MANE Select	ENSP00000390600.2:p.Glu1055Gly
ENST00000643924.1:c.3161A>G	ENSP00000495595.1:p.Glu1054Gly
ENST00000655275.1:c.3188A>G	ENSP00000499510.1:p.Glu1063Gly
ENST00000449082.2:c.3164A>G	ENSP00000390600.2:p.Glu1055Gly
NM_001293306.2:c.3161A>G	NP_001280235.2:p.Glu1054Gly
NM_001293307.2:c.2870A>G	NP_001280236.2:p.Glu957Gly
NM_006514.3:c.3164A>G	NP_006505.3:p.Glu1055Gly
XM_005265371.2:c.3173A>G	XP_005265428.1:p.Glu1058Gly
XM_011533993.1:c.3170A>G	XP_011532295.1:p.Glu1057Gly
XM_011533994.1:c.2879A>G	XP_011532296.1:p.Glu960Gly
XM_005265371.3:c.3173A>G	XP_005265428.1:p.Glu1058Gly
XM_011533993.2:c.3170A>G	XP_011532295.1:p.Glu1057Gly
XM_011533994.2:c.2879A>G	XP_011532296.1:p.Glu960Gly
NM_006514.4:c.3164A>G MANE Select	NP_006505.4:p.Glu1055Gly