Canonical Allele Identifier: CA433138126

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38723434-T-A
• MyVariant Identifiers: chr3:g.38764925T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723434T>A , CM000665.2:g.38723434T>A	GRCh38
NC_000003.11:g.38764925T>A , CM000665.1:g.38764925T>A	GRCh37
NC_000003.10:g.38739929T>A	NCBI36
NG_031891.2:g.75577A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.3348A>T MANE Select	ENSP00000390600.2:p.Thr1116=
ENST00000643924.1:c.3345A>T	ENSP00000495595.1:p.Thr1115=
ENST00000655275.1:c.3372A>T	ENSP00000499510.1:p.Thr1124=
ENST00000449082.2:c.3348A>T	ENSP00000390600.2:p.Thr1116=
NM_001293306.2:c.3345A>T	NP_001280235.2:p.Thr1115=
NM_001293307.2:c.3054A>T	NP_001280236.2:p.Thr1018=
NM_006514.3:c.3348A>T	NP_006505.3:p.Thr1116=
XM_005265371.2:c.3357A>T	XP_005265428.1:p.Thr1119=
XM_011533993.1:c.3354A>T	XP_011532295.1:p.Thr1118=
XM_011533994.1:c.3063A>T	XP_011532296.1:p.Thr1021=
XM_005265371.3:c.3357A>T	XP_005265428.1:p.Thr1119=
XM_011533993.2:c.3354A>T	XP_011532295.1:p.Thr1118=
XM_011533994.2:c.3063A>T	XP_011532296.1:p.Thr1021=
NM_006514.4:c.3348A>T MANE Select	NP_006505.4:p.Thr1116=