Canonical Allele Identifier: CA2665121264

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752142-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752142G>T , CM000665.2:g.38752142G>T	GRCh38
NC_000003.11:g.38793633G>T , CM000665.1:g.38793633G>T	GRCh37
NC_000003.10:g.38768637G>T	NCBI36
NG_031891.2:g.46869C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.1755+77C>A MANE Select	ENSP00000390600.2:n.1755+77C>A
ENST00000643924.1:c.1755+77C>A	ENSP00000495595.1:n.1755+77C>A
ENST00000655275.1:c.1782+77C>A	ENSP00000499510.1:n.1782+77C>A
ENST00000449082.2:c.1755+77C>A	ENSP00000390600.2:n.1755+77C>A
NM_001293306.2:c.1755+77C>A	NP_001280235.2:n.1755+77C>A
NM_001293307.2:c.1462-1958C>A	NP_001280236.2:n.1462-1958C>A
NM_006514.3:c.1755+77C>A	NP_006505.3:n.1755+77C>A
XM_005265371.2:c.1764+77C>A	XP_005265428.1:n.1764+77C>A
XM_011533993.1:c.1764+77C>A	XP_011532295.1:n.1764+77C>A
XM_011533994.1:c.1471-1958C>A	XP_011532296.1:n.1471-1958C>A
XM_005265371.3:c.1764+77C>A	XP_005265428.1:n.1764+77C>A
XM_011533993.2:c.1764+77C>A	XP_011532295.1:n.1764+77C>A
XM_011533994.2:c.1471-1958C>A	XP_011532296.1:n.1471-1958C>A
NM_006514.4:c.1755+77C>A MANE Select	NP_006505.4:n.1755+77C>A