Canonical Allele Identifier: CA352167115

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38752245-G-A
• MyVariant Identifiers: chr3:g.38793736G>A (hg19) ; chr3:g.38752245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752245G>A , CM000665.2:g.38752245G>A	GRCh38
NC_000003.11:g.38793736G>A , CM000665.1:g.38793736G>A	GRCh37
NC_000003.10:g.38768740G>A	NCBI36
NG_031891.2:g.46766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1729C>T MANE Select	ENSP00000390600.2:p.Leu577Phe
ENST00000643924.1:c.1729C>T	ENSP00000495595.1:p.Leu577Phe
ENST00000655275.1:c.1756C>T	ENSP00000499510.1:p.Leu586Phe
ENST00000449082.2:c.1729C>T	ENSP00000390600.2:p.Leu577Phe
NM_001293306.2:c.1729C>T	NP_001280235.2:p.Leu577Phe
NM_001293307.2:c.1462-2061C>T	NP_001280236.2:n.1462-2061C>T
NM_006514.3:c.1729C>T	NP_006505.3:p.Leu577Phe
XM_005265371.2:c.1738C>T	XP_005265428.1:p.Leu580Phe
XM_011533993.1:c.1738C>T	XP_011532295.1:p.Leu580Phe
XM_011533994.1:c.1471-2061C>T	XP_011532296.1:n.1471-2061C>T
XM_005265371.3:c.1738C>T	XP_005265428.1:p.Leu580Phe
XM_011533993.2:c.1738C>T	XP_011532295.1:p.Leu580Phe
XM_011533994.2:c.1471-2061C>T	XP_011532296.1:n.1471-2061C>T
NM_006514.4:c.1729C>T MANE Select	NP_006505.4:p.Leu577Phe