Canonical Allele Identifier: CA906865410

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1727958
• ClinVar RCV Id: RCV002320590
• dbSNP Id: rs1204092075
• gnomAD v3: 3-38725271-G-GC
• gnomAD v4: 3-38725271-G-GC
• MyVariant Identifiers: chr3:g.38766762_38766763insC (hg19) ; chr3:g.38725271_38725272insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725271_38725272insC , CM000665.2:g.38725271_38725272insC	GRCh38
NC_000003.11:g.38766762_38766763insC , CM000665.1:g.38766762_38766763insC	GRCh37
NC_000003.10:g.38741766_38741767insC	NCBI36
NG_031891.2:g.73739_73740insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3130_3131insG MANE Select	ENSP00000390600.2:p.Thr1044SerfsTer12
ENST00000643924.1:c.3127_3128insG	ENSP00000495595.1:p.Thr1043SerfsTer12
ENST00000655275.1:c.3154_3155insG	ENSP00000499510.1:p.Thr1052SerfsTer12
ENST00000449082.2:c.3130_3131insG	ENSP00000390600.2:p.Thr1044SerfsTer12
NM_001293306.2:c.3127_3128insG	NP_001280235.2:p.Thr1043SerfsTer12
NM_001293307.2:c.2836_2837insG	NP_001280236.2:p.Thr946SerfsTer12
NM_006514.3:c.3130_3131insG	NP_006505.3:p.Thr1044SerfsTer12
XM_005265371.2:c.3139_3140insG	XP_005265428.1:p.Thr1047SerfsTer12
XM_011533993.1:c.3136_3137insG	XP_011532295.1:p.Thr1046SerfsTer12
XM_011533994.1:c.2845_2846insG	XP_011532296.1:p.Thr949SerfsTer12
XM_005265371.3:c.3139_3140insG	XP_005265428.1:p.Thr1047SerfsTer12
XM_011533993.2:c.3136_3137insG	XP_011532295.1:p.Thr1046SerfsTer12
XM_011533994.2:c.2845_2846insG	XP_011532296.1:p.Thr949SerfsTer12
NM_006514.4:c.3130_3131insG MANE Select	NP_006505.4:p.Thr1044SerfsTer12