Canonical Allele Identifier: CA433138535

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725273-C-T
• MyVariant Identifiers: chr3:g.38766764C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725273C>T , CM000665.2:g.38725273C>T	GRCh38
NC_000003.11:g.38766764C>T , CM000665.1:g.38766764C>T	GRCh37
NC_000003.10:g.38741768C>T	NCBI36
NG_031891.2:g.73738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3129G>A MANE Select	ENSP00000390600.2:p.Leu1043=
ENST00000643924.1:c.3126G>A	ENSP00000495595.1:p.Leu1042=
ENST00000655275.1:c.3153G>A	ENSP00000499510.1:p.Leu1051=
ENST00000449082.2:c.3129G>A	ENSP00000390600.2:p.Leu1043=
NM_001293306.2:c.3126G>A	NP_001280235.2:p.Leu1042=
NM_001293307.2:c.2835G>A	NP_001280236.2:p.Leu945=
NM_006514.3:c.3129G>A	NP_006505.3:p.Leu1043=
XM_005265371.2:c.3138G>A	XP_005265428.1:p.Leu1046=
XM_011533993.1:c.3135G>A	XP_011532295.1:p.Leu1045=
XM_011533994.1:c.2844G>A	XP_011532296.1:p.Leu948=
XM_005265371.3:c.3138G>A	XP_005265428.1:p.Leu1046=
XM_011533993.2:c.3135G>A	XP_011532295.1:p.Leu1045=
XM_011533994.2:c.2844G>A	XP_011532296.1:p.Leu948=
NM_006514.4:c.3129G>A MANE Select	NP_006505.4:p.Leu1043=