Canonical Allele Identifier: CA2320352

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1727504
• ClinVar RCV Id: RCV002325844 ; RCV003099190
• dbSNP Id: rs760664319
• ExAC: 3:38766797 CT / C
• gnomAD v2: 3-38766797-CT-C
• gnomAD v4: 3-38725306-CT-C
• MyVariant Identifiers: chr3:g.38766798del (hg19) ; chr3:g.38725307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725307del , CM000665.2:g.38725307del	GRCh38
NC_000003.11:g.38766798del , CM000665.1:g.38766798del	GRCh37
NC_000003.10:g.38741802del	NCBI36
NG_031891.2:g.73704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3095del MANE Select	ENSP00000390600.2:p.Gln1032ArgfsTer12
ENST00000643924.1:c.3092del	ENSP00000495595.1:p.Gln1031ArgfsTer12
ENST00000655275.1:c.3119del	ENSP00000499510.1:p.Gln1040ArgfsTer12
ENST00000449082.2:c.3095del	ENSP00000390600.2:p.Gln1032ArgfsTer12
NM_001293306.2:c.3092del	NP_001280235.2:p.Gln1031ArgfsTer12
NM_001293307.2:c.2801del	NP_001280236.2:p.Gln934ArgfsTer12
NM_006514.3:c.3095del	NP_006505.3:p.Gln1032ArgfsTer12
XM_005265371.2:c.3104del	XP_005265428.1:p.Gln1035ArgfsTer12
XM_011533993.1:c.3101del	XP_011532295.1:p.Gln1034ArgfsTer12
XM_011533994.1:c.2810del	XP_011532296.1:p.Gln937ArgfsTer12
XM_005265371.3:c.3104del	XP_005265428.1:p.Gln1035ArgfsTer12
XM_011533993.2:c.3101del	XP_011532295.1:p.Gln1034ArgfsTer12
XM_011533994.2:c.2810del	XP_011532296.1:p.Gln937ArgfsTer12
NM_006514.4:c.3095del MANE Select	NP_006505.4:p.Gln1032ArgfsTer12