Canonical Allele Identifier: CA352156749

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 844925
• ClinVar RCV Id: RCV001047893
• dbSNP Id: rs771555935
• MyVariant Identifiers: chr3:g.38766753C>G (hg19) ; chr3:g.38725262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725262C>G , CM000665.2:g.38725262C>G	GRCh38
NC_000003.11:g.38766753C>G , CM000665.1:g.38766753C>G	GRCh37
NC_000003.10:g.38741757C>G	NCBI36
NG_031891.2:g.73749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3140G>C MANE Select	ENSP00000390600.2:p.Ser1047Thr
ENST00000643924.1:c.3137G>C	ENSP00000495595.1:p.Ser1046Thr
ENST00000655275.1:c.3164G>C	ENSP00000499510.1:p.Ser1055Thr
ENST00000449082.2:c.3140G>C	ENSP00000390600.2:p.Ser1047Thr
NM_001293306.2:c.3137G>C	NP_001280235.2:p.Ser1046Thr
NM_001293307.2:c.2846G>C	NP_001280236.2:p.Ser949Thr
NM_006514.3:c.3140G>C	NP_006505.3:p.Ser1047Thr
XM_005265371.2:c.3149G>C	XP_005265428.1:p.Ser1050Thr
XM_011533993.1:c.3146G>C	XP_011532295.1:p.Ser1049Thr
XM_011533994.1:c.2855G>C	XP_011532296.1:p.Ser952Thr
XM_005265371.3:c.3149G>C	XP_005265428.1:p.Ser1050Thr
XM_011533993.2:c.3146G>C	XP_011532295.1:p.Ser1049Thr
XM_011533994.2:c.2855G>C	XP_011532296.1:p.Ser952Thr
NM_006514.4:c.3140G>C MANE Select	NP_006505.4:p.Ser1047Thr