Canonical Allele Identifier: CA433138527

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725261-G-A
• MyVariant Identifiers: chr3:g.38766752G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725261G>A , CM000665.2:g.38725261G>A	GRCh38
NC_000003.11:g.38766752G>A , CM000665.1:g.38766752G>A	GRCh37
NC_000003.10:g.38741756G>A	NCBI36
NG_031891.2:g.73750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3141C>T MANE Select	ENSP00000390600.2:p.Ser1047=
ENST00000643924.1:c.3138C>T	ENSP00000495595.1:p.Ser1046=
ENST00000655275.1:c.3165C>T	ENSP00000499510.1:p.Ser1055=
ENST00000449082.2:c.3141C>T	ENSP00000390600.2:p.Ser1047=
NM_001293306.2:c.3138C>T	NP_001280235.2:p.Ser1046=
NM_001293307.2:c.2847C>T	NP_001280236.2:p.Ser949=
NM_006514.3:c.3141C>T	NP_006505.3:p.Ser1047=
XM_005265371.2:c.3150C>T	XP_005265428.1:p.Ser1050=
XM_011533993.1:c.3147C>T	XP_011532295.1:p.Ser1049=
XM_011533994.1:c.2856C>T	XP_011532296.1:p.Ser952=
XM_005265371.3:c.3150C>T	XP_005265428.1:p.Ser1050=
XM_011533993.2:c.3147C>T	XP_011532295.1:p.Ser1049=
XM_011533994.2:c.2856C>T	XP_011532296.1:p.Ser952=
NM_006514.4:c.3141C>T MANE Select	NP_006505.4:p.Ser1047=