Canonical Allele Identifier: CA352156825

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725298-T-C
• MyVariant Identifiers: chr3:g.38766789T>C (hg19) ; chr3:g.38725298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725298T>C , CM000665.2:g.38725298T>C	GRCh38
NC_000003.11:g.38766789T>C , CM000665.1:g.38766789T>C	GRCh37
NC_000003.10:g.38741793T>C	NCBI36
NG_031891.2:g.73713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3104A>G MANE Select	ENSP00000390600.2:p.Gln1035Arg
ENST00000643924.1:c.3101A>G	ENSP00000495595.1:p.Gln1034Arg
ENST00000655275.1:c.3128A>G	ENSP00000499510.1:p.Gln1043Arg
ENST00000449082.2:c.3104A>G	ENSP00000390600.2:p.Gln1035Arg
NM_001293306.2:c.3101A>G	NP_001280235.2:p.Gln1034Arg
NM_001293307.2:c.2810A>G	NP_001280236.2:p.Gln937Arg
NM_006514.3:c.3104A>G	NP_006505.3:p.Gln1035Arg
XM_005265371.2:c.3113A>G	XP_005265428.1:p.Gln1038Arg
XM_011533993.1:c.3110A>G	XP_011532295.1:p.Gln1037Arg
XM_011533994.1:c.2819A>G	XP_011532296.1:p.Gln940Arg
XM_005265371.3:c.3113A>G	XP_005265428.1:p.Gln1038Arg
XM_011533993.2:c.3110A>G	XP_011532295.1:p.Gln1037Arg
XM_011533994.2:c.2819A>G	XP_011532296.1:p.Gln940Arg
NM_006514.4:c.3104A>G MANE Select	NP_006505.4:p.Gln1035Arg