Canonical Allele Identifier: CA2320323

Gene: SCN10A

Linked Data

• dbSNP Id: rs759031742
• ExAC: 3:38766685 C / G
• gnomAD v2: 3-38766685-C-G
• gnomAD v4: 3-38725194-C-G
• MyVariant Identifiers: chr3:g.38766685C>G (hg19) ; chr3:g.38725194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725194C>G , CM000665.2:g.38725194C>G	GRCh38
NC_000003.11:g.38766685C>G , CM000665.1:g.38766685C>G	GRCh37
NC_000003.10:g.38741689C>G	NCBI36
NG_031891.2:g.73817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3208G>C MANE Select	ENSP00000390600.2:p.Val1070Leu
ENST00000643924.1:c.3205G>C	ENSP00000495595.1:p.Val1069Leu
ENST00000655275.1:c.3232G>C	ENSP00000499510.1:p.Val1078Leu
ENST00000449082.2:c.3208G>C	ENSP00000390600.2:p.Val1070Leu
NM_001293306.2:c.3205G>C	NP_001280235.2:p.Val1069Leu
NM_001293307.2:c.2914G>C	NP_001280236.2:p.Val972Leu
NM_006514.3:c.3208G>C	NP_006505.3:p.Val1070Leu
XM_005265371.2:c.3217G>C	XP_005265428.1:p.Val1073Leu
XM_011533993.1:c.3214G>C	XP_011532295.1:p.Val1072Leu
XM_011533994.1:c.2923G>C	XP_011532296.1:p.Val975Leu
XM_005265371.3:c.3217G>C	XP_005265428.1:p.Val1073Leu
XM_011533993.2:c.3214G>C	XP_011532295.1:p.Val1072Leu
XM_011533994.2:c.2923G>C	XP_011532296.1:p.Val975Leu
NM_006514.4:c.3208G>C MANE Select	NP_006505.4:p.Val1070Leu