Canonical Allele Identifier: CA2320347

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1022653
• ClinVar RCV Id: RCV001322592
• dbSNP Id: rs765623505
• ExAC: 3:38766777 C / T
• gnomAD v2: 3-38766777-C-T
• gnomAD v4: 3-38725286-C-T
• MyVariant Identifiers: chr3:g.38766777C>T (hg19) ; chr3:g.38725286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725286C>T , CM000665.2:g.38725286C>T	GRCh38
NC_000003.11:g.38766777C>T , CM000665.1:g.38766777C>T	GRCh37
NC_000003.10:g.38741781C>T	NCBI36
NG_031891.2:g.73725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3116G>A MANE Select	ENSP00000390600.2:p.Cys1039Tyr
ENST00000643924.1:c.3113G>A	ENSP00000495595.1:p.Cys1038Tyr
ENST00000655275.1:c.3140G>A	ENSP00000499510.1:p.Cys1047Tyr
ENST00000449082.2:c.3116G>A	ENSP00000390600.2:p.Cys1039Tyr
NM_001293306.2:c.3113G>A	NP_001280235.2:p.Cys1038Tyr
NM_001293307.2:c.2822G>A	NP_001280236.2:p.Cys941Tyr
NM_006514.3:c.3116G>A	NP_006505.3:p.Cys1039Tyr
XM_005265371.2:c.3125G>A	XP_005265428.1:p.Cys1042Tyr
XM_011533993.1:c.3122G>A	XP_011532295.1:p.Cys1041Tyr
XM_011533994.1:c.2831G>A	XP_011532296.1:p.Cys944Tyr
XM_005265371.3:c.3125G>A	XP_005265428.1:p.Cys1042Tyr
XM_011533993.2:c.3122G>A	XP_011532295.1:p.Cys1041Tyr
XM_011533994.2:c.2831G>A	XP_011532296.1:p.Cys944Tyr
NM_006514.4:c.3116G>A MANE Select	NP_006505.4:p.Cys1039Tyr