Canonical Allele Identifier: CA2320331

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1002406
• ClinVar RCV Id: RCV001298826 ; RCV001509211 ; RCV002322194
• dbSNP Id: rs750655728
• ExAC: 3:38766715 A / C
• gnomAD v2: 3-38766715-A-C
• gnomAD v3: 3-38725224-A-C
• gnomAD v4: 3-38725224-A-C
• MyVariant Identifiers: chr3:g.38766715A>C (hg19) ; chr3:g.38725224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725224A>C , CM000665.2:g.38725224A>C	GRCh38
NC_000003.11:g.38766715A>C , CM000665.1:g.38766715A>C	GRCh37
NC_000003.10:g.38741719A>C	NCBI36
NG_031891.2:g.73787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3178T>G MANE Select	ENSP00000390600.2:p.Ser1060Ala
ENST00000643924.1:c.3175T>G	ENSP00000495595.1:p.Ser1059Ala
ENST00000655275.1:c.3202T>G	ENSP00000499510.1:p.Ser1068Ala
ENST00000449082.2:c.3178T>G	ENSP00000390600.2:p.Ser1060Ala
NM_001293306.2:c.3175T>G	NP_001280235.2:p.Ser1059Ala
NM_001293307.2:c.2884T>G	NP_001280236.2:p.Ser962Ala
NM_006514.3:c.3178T>G	NP_006505.3:p.Ser1060Ala
XM_005265371.2:c.3187T>G	XP_005265428.1:p.Ser1063Ala
XM_011533993.1:c.3184T>G	XP_011532295.1:p.Ser1062Ala
XM_011533994.1:c.2893T>G	XP_011532296.1:p.Ser965Ala
XM_005265371.3:c.3187T>G	XP_005265428.1:p.Ser1063Ala
XM_011533993.2:c.3184T>G	XP_011532295.1:p.Ser1062Ala
XM_011533994.2:c.2893T>G	XP_011532296.1:p.Ser965Ala
NM_006514.4:c.3178T>G MANE Select	NP_006505.4:p.Ser1060Ala