Canonical Allele Identifier: CA352156848

Gene: SCN10A

Linked Data

• dbSNP Id: rs371331011
• gnomAD v4: 3-38725308-G-T
• MyVariant Identifiers: chr3:g.38766799G>T (hg19) ; chr3:g.38725308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725308G>T , CM000665.2:g.38725308G>T	GRCh38
NC_000003.11:g.38766799G>T , CM000665.1:g.38766799G>T	GRCh37
NC_000003.10:g.38741803G>T	NCBI36
NG_031891.2:g.73703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3094C>A MANE Select	ENSP00000390600.2:p.Gln1032Lys
ENST00000643924.1:c.3091C>A	ENSP00000495595.1:p.Gln1031Lys
ENST00000655275.1:c.3118C>A	ENSP00000499510.1:p.Gln1040Lys
ENST00000449082.2:c.3094C>A	ENSP00000390600.2:p.Gln1032Lys
NM_001293306.2:c.3091C>A	NP_001280235.2:p.Gln1031Lys
NM_001293307.2:c.2800C>A	NP_001280236.2:p.Gln934Lys
NM_006514.3:c.3094C>A	NP_006505.3:p.Gln1032Lys
XM_005265371.2:c.3103C>A	XP_005265428.1:p.Gln1035Lys
XM_011533993.1:c.3100C>A	XP_011532295.1:p.Gln1034Lys
XM_011533994.1:c.2809C>A	XP_011532296.1:p.Gln937Lys
XM_005265371.3:c.3103C>A	XP_005265428.1:p.Gln1035Lys
XM_011533993.2:c.3100C>A	XP_011532295.1:p.Gln1034Lys
XM_011533994.2:c.2809C>A	XP_011532296.1:p.Gln937Lys
NM_006514.4:c.3094C>A MANE Select	NP_006505.4:p.Gln1032Lys