Canonical Allele Identifier: CA645521543

Gene: SCN10A

Linked Data

• COSMIC: COSM5906297

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723423C>T , CM000665.2:g.38723423C>T	GRCh38
NC_000003.11:g.38764914C>T , CM000665.1:g.38764914C>T	GRCh37
NC_000003.10:g.38739918C>T	NCBI36
NG_031891.2:g.75588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3352+7G>A MANE Select	ENSP00000390600.2:n.3352+7G>A
ENST00000643924.1:c.3349+7G>A	ENSP00000495595.1:n.3349+7G>A
ENST00000655275.1:c.3376+7G>A	ENSP00000499510.1:n.3376+7G>A
ENST00000449082.2:c.3352+7G>A	ENSP00000390600.2:n.3352+7G>A
NM_001293306.2:c.3349+7G>A	NP_001280235.2:n.3349+7G>A
NM_001293307.2:c.3058+7G>A	NP_001280236.2:n.3058+7G>A
NM_006514.3:c.3352+7G>A	NP_006505.3:n.3352+7G>A
XM_005265371.2:c.3361+7G>A	XP_005265428.1:n.3361+7G>A
XM_011533993.1:c.3358+7G>A	XP_011532295.1:n.3358+7G>A
XM_011533994.1:c.3067+7G>A	XP_011532296.1:n.3067+7G>A
XM_005265371.3:c.3361+7G>A	XP_005265428.1:n.3361+7G>A
XM_011533993.2:c.3358+7G>A	XP_011532295.1:n.3358+7G>A
XM_011533994.2:c.3067+7G>A	XP_011532296.1:n.3067+7G>A
NM_006514.4:c.3352+7G>A MANE Select	NP_006505.4:n.3352+7G>A