Canonical Allele Identifier: CA433138464

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725192-A-G
• MyVariant Identifiers: chr3:g.38766683A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725192A>G , CM000665.2:g.38725192A>G	GRCh38
NC_000003.11:g.38766683A>G , CM000665.1:g.38766683A>G	GRCh37
NC_000003.10:g.38741687A>G	NCBI36
NG_031891.2:g.73819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3210T>C MANE Select	ENSP00000390600.2:p.Val1070=
ENST00000643924.1:c.3207T>C	ENSP00000495595.1:p.Val1069=
ENST00000655275.1:c.3234T>C	ENSP00000499510.1:p.Val1078=
ENST00000449082.2:c.3210T>C	ENSP00000390600.2:p.Val1070=
NM_001293306.2:c.3207T>C	NP_001280235.2:p.Val1069=
NM_001293307.2:c.2916T>C	NP_001280236.2:p.Val972=
NM_006514.3:c.3210T>C	NP_006505.3:p.Val1070=
XM_005265371.2:c.3219T>C	XP_005265428.1:p.Val1073=
XM_011533993.1:c.3216T>C	XP_011532295.1:p.Val1072=
XM_011533994.1:c.2925T>C	XP_011532296.1:p.Val975=
XM_005265371.3:c.3219T>C	XP_005265428.1:p.Val1073=
XM_011533993.2:c.3216T>C	XP_011532295.1:p.Val1072=
XM_011533994.2:c.2925T>C	XP_011532296.1:p.Val975=
NM_006514.4:c.3210T>C MANE Select	NP_006505.4:p.Val1070=