Canonical Allele Identifier: CA433138433

Gene: SCN10A

Linked Data

• dbSNP Id: rs2125999872
• gnomAD v4: 3-38725177-A-G
• MyVariant Identifiers: chr3:g.38766668A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725177A>G , CM000665.2:g.38725177A>G	GRCh38
NC_000003.11:g.38766668A>G , CM000665.1:g.38766668A>G	GRCh37
NC_000003.10:g.38741672A>G	NCBI36
NG_031891.2:g.73834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3225T>C MANE Select	ENSP00000390600.2:p.Ala1075=
ENST00000643924.1:c.3222T>C	ENSP00000495595.1:p.Ala1074=
ENST00000655275.1:c.3249T>C	ENSP00000499510.1:p.Ala1083=
ENST00000449082.2:c.3225T>C	ENSP00000390600.2:p.Ala1075=
NM_001293306.2:c.3222T>C	NP_001280235.2:p.Ala1074=
NM_001293307.2:c.2931T>C	NP_001280236.2:p.Ala977=
NM_006514.3:c.3225T>C	NP_006505.3:p.Ala1075=
XM_005265371.2:c.3234T>C	XP_005265428.1:p.Ala1078=
XM_011533993.1:c.3231T>C	XP_011532295.1:p.Ala1077=
XM_011533994.1:c.2940T>C	XP_011532296.1:p.Ala980=
XM_005265371.3:c.3234T>C	XP_005265428.1:p.Ala1078=
XM_011533993.2:c.3231T>C	XP_011532295.1:p.Ala1077=
XM_011533994.2:c.2940T>C	XP_011532296.1:p.Ala980=
NM_006514.4:c.3225T>C MANE Select	NP_006505.4:p.Ala1075=