Canonical Allele Identifier: CA433138552

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725285-A-G
• MyVariant Identifiers: chr3:g.38766776A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725285A>G , CM000665.2:g.38725285A>G	GRCh38
NC_000003.11:g.38766776A>G , CM000665.1:g.38766776A>G	GRCh37
NC_000003.10:g.38741780A>G	NCBI36
NG_031891.2:g.73726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3117T>C MANE Select	ENSP00000390600.2:p.Cys1039=
ENST00000643924.1:c.3114T>C	ENSP00000495595.1:p.Cys1038=
ENST00000655275.1:c.3141T>C	ENSP00000499510.1:p.Cys1047=
ENST00000449082.2:c.3117T>C	ENSP00000390600.2:p.Cys1039=
NM_001293306.2:c.3114T>C	NP_001280235.2:p.Cys1038=
NM_001293307.2:c.2823T>C	NP_001280236.2:p.Cys941=
NM_006514.3:c.3117T>C	NP_006505.3:p.Cys1039=
XM_005265371.2:c.3126T>C	XP_005265428.1:p.Cys1042=
XM_011533993.1:c.3123T>C	XP_011532295.1:p.Cys1041=
XM_011533994.1:c.2832T>C	XP_011532296.1:p.Cys944=
XM_005265371.3:c.3126T>C	XP_005265428.1:p.Cys1042=
XM_011533993.2:c.3123T>C	XP_011532295.1:p.Cys1041=
XM_011533994.2:c.2832T>C	XP_011532296.1:p.Cys944=
NM_006514.4:c.3117T>C MANE Select	NP_006505.4:p.Cys1039=