Canonical Allele Identifier: CA2320837

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 407757
• ClinVar RCV Id: RCV000466931 ; RCV002393114
• dbSNP Id: rs755100226
• ExAC: 3:38793979 T / C
• gnomAD v2: 3-38793979-T-C
• gnomAD v3: 3-38752488-T-C
• gnomAD v4: 3-38752488-T-C
• MyVariant Identifiers: chr3:g.38793979T>C (hg19) ; chr3:g.38752488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752488T>C , CM000665.2:g.38752488T>C	GRCh38
NC_000003.11:g.38793979T>C , CM000665.1:g.38793979T>C	GRCh37
NC_000003.10:g.38768983T>C	NCBI36
NG_031891.2:g.46523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1486A>G MANE Select	ENSP00000390600.2:p.Lys496Glu
ENST00000643924.1:c.1486A>G	ENSP00000495595.1:p.Lys496Glu
ENST00000655275.1:c.1513A>G	ENSP00000499510.1:p.Lys505Glu
ENST00000449082.2:c.1486A>G	ENSP00000390600.2:p.Lys496Glu
NM_001293306.2:c.1486A>G	NP_001280235.2:p.Lys496Glu
NM_001293307.2:c.1462-2304A>G	NP_001280236.2:n.1462-2304A>G
NM_006514.3:c.1486A>G	NP_006505.3:p.Lys496Glu
XM_005265371.2:c.1495A>G	XP_005265428.1:p.Lys499Glu
XM_011533993.1:c.1495A>G	XP_011532295.1:p.Lys499Glu
XM_011533994.1:c.1471-2304A>G	XP_011532296.1:n.1471-2304A>G
XM_005265371.3:c.1495A>G	XP_005265428.1:p.Lys499Glu
XM_011533993.2:c.1495A>G	XP_011532295.1:p.Lys499Glu
XM_011533994.2:c.1471-2304A>G	XP_011532296.1:n.1471-2304A>G
NM_006514.4:c.1486A>G MANE Select	NP_006505.4:p.Lys496Glu