Canonical Allele Identifier: CA2320316

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2198591
• ClinVar RCV Id: RCV002640464
• dbSNP Id: rs781058660
• ExAC: 3:38766654 G / T
• gnomAD v2: 3-38766654-G-T
• gnomAD v3: 3-38725163-G-T
• gnomAD v4: 3-38725163-G-T
• MyVariant Identifiers: chr3:g.38766654G>T (hg19) ; chr3:g.38725163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725163G>T , CM000665.2:g.38725163G>T	GRCh38
NC_000003.11:g.38766654G>T , CM000665.1:g.38766654G>T	GRCh37
NC_000003.10:g.38741658G>T	NCBI36
NG_031891.2:g.73848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3228+11C>A MANE Select	ENSP00000390600.2:n.3228+11C>A
ENST00000643924.1:c.3225+11C>A	ENSP00000495595.1:n.3225+11C>A
ENST00000655275.1:c.3252+11C>A	ENSP00000499510.1:n.3252+11C>A
ENST00000449082.2:c.3228+11C>A	ENSP00000390600.2:n.3228+11C>A
NM_001293306.2:c.3225+11C>A	NP_001280235.2:n.3225+11C>A
NM_001293307.2:c.2934+11C>A	NP_001280236.2:n.2934+11C>A
NM_006514.3:c.3228+11C>A	NP_006505.3:n.3228+11C>A
XM_005265371.2:c.3237+11C>A	XP_005265428.1:n.3237+11C>A
XM_011533993.1:c.3234+11C>A	XP_011532295.1:n.3234+11C>A
XM_011533994.1:c.2943+11C>A	XP_011532296.1:n.2943+11C>A
XM_005265371.3:c.3237+11C>A	XP_005265428.1:n.3237+11C>A
XM_011533993.2:c.3234+11C>A	XP_011532295.1:n.3234+11C>A
XM_011533994.2:c.2943+11C>A	XP_011532296.1:n.2943+11C>A
NM_006514.4:c.3228+11C>A MANE Select	NP_006505.4:n.3228+11C>A