Canonical Allele Identifier: CA352156783

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2621908
• ClinVar RCV Id: RCV004363681
• dbSNP Id: rs762335489
• gnomAD v3: 3-38725279-G-T
• gnomAD v4: 3-38725279-G-T
• COSMIC: COSM6164801
• MyVariant Identifiers: chr3:g.38766770G>T (hg19) ; chr3:g.38725279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725279G>T , CM000665.2:g.38725279G>T	GRCh38
NC_000003.11:g.38766770G>T , CM000665.1:g.38766770G>T	GRCh37
NC_000003.10:g.38741774G>T	NCBI36
NG_031891.2:g.73732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3123C>A MANE Select	ENSP00000390600.2:p.Asp1041Glu
ENST00000643924.1:c.3120C>A	ENSP00000495595.1:p.Asp1040Glu
ENST00000655275.1:c.3147C>A	ENSP00000499510.1:p.Asp1049Glu
ENST00000449082.2:c.3123C>A	ENSP00000390600.2:p.Asp1041Glu
NM_001293306.2:c.3120C>A	NP_001280235.2:p.Asp1040Glu
NM_001293307.2:c.2829C>A	NP_001280236.2:p.Asp943Glu
NM_006514.3:c.3123C>A	NP_006505.3:p.Asp1041Glu
XM_005265371.2:c.3132C>A	XP_005265428.1:p.Asp1044Glu
XM_011533993.1:c.3129C>A	XP_011532295.1:p.Asp1043Glu
XM_011533994.1:c.2838C>A	XP_011532296.1:p.Asp946Glu
XM_005265371.3:c.3132C>A	XP_005265428.1:p.Asp1044Glu
XM_011533993.2:c.3129C>A	XP_011532295.1:p.Asp1043Glu
XM_011533994.2:c.2838C>A	XP_011532296.1:p.Asp946Glu
NM_006514.4:c.3123C>A MANE Select	NP_006505.4:p.Asp1041Glu