Canonical Allele Identifier: CA2320335

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2625775
• ClinVar RCV Id: RCV003387221
• dbSNP Id: rs777190579
• ExAC: 3:38766735 G / T
• gnomAD v2: 3-38766735-G-T
• gnomAD v4: 3-38725244-G-T
• MyVariant Identifiers: chr3:g.38766735G>T (hg19) ; chr3:g.38725244G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725244G>T , CM000665.2:g.38725244G>T	GRCh38
NC_000003.11:g.38766735G>T , CM000665.1:g.38766735G>T	GRCh37
NC_000003.10:g.38741739G>T	NCBI36
NG_031891.2:g.73767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3158C>A MANE Select	ENSP00000390600.2:p.Ser1053Tyr
ENST00000643924.1:c.3155C>A	ENSP00000495595.1:p.Ser1052Tyr
ENST00000655275.1:c.3182C>A	ENSP00000499510.1:p.Ser1061Tyr
ENST00000449082.2:c.3158C>A	ENSP00000390600.2:p.Ser1053Tyr
NM_001293306.2:c.3155C>A	NP_001280235.2:p.Ser1052Tyr
NM_001293307.2:c.2864C>A	NP_001280236.2:p.Ser955Tyr
NM_006514.3:c.3158C>A	NP_006505.3:p.Ser1053Tyr
XM_005265371.2:c.3167C>A	XP_005265428.1:p.Ser1056Tyr
XM_011533993.1:c.3164C>A	XP_011532295.1:p.Ser1055Tyr
XM_011533994.1:c.2873C>A	XP_011532296.1:p.Ser958Tyr
XM_005265371.3:c.3167C>A	XP_005265428.1:p.Ser1056Tyr
XM_011533993.2:c.3164C>A	XP_011532295.1:p.Ser1055Tyr
XM_011533994.2:c.2873C>A	XP_011532296.1:p.Ser958Tyr
NM_006514.4:c.3158C>A MANE Select	NP_006505.4:p.Ser1053Tyr