Canonical Allele Identifier: CA352155970

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38764921C>A (hg19) ; chr3:g.38723430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723430C>A , CM000665.2:g.38723430C>A	GRCh38
NC_000003.11:g.38764921C>A , CM000665.1:g.38764921C>A	GRCh37
NC_000003.10:g.38739925C>A	NCBI36
NG_031891.2:g.75581G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3352G>T MANE Select	ENSP00000390600.2:p.Gly1118Ter
ENST00000643924.1:c.3349G>T	ENSP00000495595.1:p.Gly1117Ter
ENST00000655275.1:c.3376G>T	ENSP00000499510.1:p.Gly1126Ter
ENST00000449082.2:c.3352G>T	ENSP00000390600.2:p.Gly1118Ter
NM_001293306.2:c.3349G>T	NP_001280235.2:p.Gly1117Ter
NM_001293307.2:c.3058G>T	NP_001280236.2:p.Gly1020Ter
NM_006514.3:c.3352G>T	NP_006505.3:p.Gly1118Ter
XM_005265371.2:c.3361G>T	XP_005265428.1:p.Gly1121Ter
XM_011533993.1:c.3358G>T	XP_011532295.1:p.Gly1120Ter
XM_011533994.1:c.3067G>T	XP_011532296.1:p.Gly1023Ter
XM_005265371.3:c.3361G>T	XP_005265428.1:p.Gly1121Ter
XM_011533993.2:c.3358G>T	XP_011532295.1:p.Gly1120Ter
XM_011533994.2:c.3067G>T	XP_011532296.1:p.Gly1023Ter
NM_006514.4:c.3352G>T MANE Select	NP_006505.4:p.Gly1118Ter