Canonical Allele Identifier: CA352167264

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 1777528
• ClinVar RCV Id: RCV002403861
• gnomAD v4: 3-38752311-G-A
• MyVariant Identifiers: chr3:g.38793802G>A (hg19) ; chr3:g.38752311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752311G>A , CM000665.2:g.38752311G>A	GRCh38
NC_000003.11:g.38793802G>A , CM000665.1:g.38793802G>A	GRCh37
NC_000003.10:g.38768806G>A	NCBI36
NG_031891.2:g.46700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1663C>T MANE Select	ENSP00000390600.2:p.Pro555Ser
ENST00000643924.1:c.1663C>T	ENSP00000495595.1:p.Pro555Ser
ENST00000655275.1:c.1690C>T	ENSP00000499510.1:p.Pro564Ser
ENST00000449082.2:c.1663C>T	ENSP00000390600.2:p.Pro555Ser
NM_001293306.2:c.1663C>T	NP_001280235.2:p.Pro555Ser
NM_001293307.2:c.1462-2127C>T	NP_001280236.2:n.1462-2127C>T
NM_006514.3:c.1663C>T	NP_006505.3:p.Pro555Ser
XM_005265371.2:c.1672C>T	XP_005265428.1:p.Pro558Ser
XM_011533993.1:c.1672C>T	XP_011532295.1:p.Pro558Ser
XM_011533994.1:c.1471-2127C>T	XP_011532296.1:n.1471-2127C>T
XM_005265371.3:c.1672C>T	XP_005265428.1:p.Pro558Ser
XM_011533993.2:c.1672C>T	XP_011532295.1:p.Pro558Ser
XM_011533994.2:c.1471-2127C>T	XP_011532296.1:n.1471-2127C>T
NM_006514.4:c.1663C>T MANE Select	NP_006505.4:p.Pro555Ser