Canonical Allele Identifier: CA352167306

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752331-G-C
• MyVariant Identifiers: chr3:g.38793822G>C (hg19) ; chr3:g.38752331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752331G>C , CM000665.2:g.38752331G>C	GRCh38
NC_000003.11:g.38793822G>C , CM000665.1:g.38793822G>C	GRCh37
NC_000003.10:g.38768826G>C	NCBI36
NG_031891.2:g.46680C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.1643C>G MANE Select	ENSP00000390600.2:p.Pro548Arg
ENST00000643924.1:c.1643C>G	ENSP00000495595.1:p.Pro548Arg
ENST00000655275.1:c.1670C>G	ENSP00000499510.1:p.Pro557Arg
ENST00000449082.2:c.1643C>G	ENSP00000390600.2:p.Pro548Arg
NM_001293306.2:c.1643C>G	NP_001280235.2:p.Pro548Arg
NM_001293307.2:c.1462-2147C>G	NP_001280236.2:n.1462-2147C>G
NM_006514.3:c.1643C>G	NP_006505.3:p.Pro548Arg
XM_005265371.2:c.1652C>G	XP_005265428.1:p.Pro551Arg
XM_011533993.1:c.1652C>G	XP_011532295.1:p.Pro551Arg
XM_011533994.1:c.1471-2147C>G	XP_011532296.1:n.1471-2147C>G
XM_005265371.3:c.1652C>G	XP_005265428.1:p.Pro551Arg
XM_011533993.2:c.1652C>G	XP_011532295.1:p.Pro551Arg
XM_011533994.2:c.1471-2147C>G	XP_011532296.1:n.1471-2147C>G
NM_006514.4:c.1643C>G MANE Select	NP_006505.4:p.Pro548Arg