Canonical Allele Identifier: CA433138491

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725219-C-G
• MyVariant Identifiers: chr3:g.38766710C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725219C>G , CM000665.2:g.38725219C>G	GRCh38
NC_000003.11:g.38766710C>G , CM000665.1:g.38766710C>G	GRCh37
NC_000003.10:g.38741714C>G	NCBI36
NG_031891.2:g.73792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3183G>C MANE Select	ENSP00000390600.2:p.Leu1061=
ENST00000643924.1:c.3180G>C	ENSP00000495595.1:p.Leu1060=
ENST00000655275.1:c.3207G>C	ENSP00000499510.1:p.Leu1069=
ENST00000449082.2:c.3183G>C	ENSP00000390600.2:p.Leu1061=
NM_001293306.2:c.3180G>C	NP_001280235.2:p.Leu1060=
NM_001293307.2:c.2889G>C	NP_001280236.2:p.Leu963=
NM_006514.3:c.3183G>C	NP_006505.3:p.Leu1061=
XM_005265371.2:c.3192G>C	XP_005265428.1:p.Leu1064=
XM_011533993.1:c.3189G>C	XP_011532295.1:p.Leu1063=
XM_011533994.1:c.2898G>C	XP_011532296.1:p.Leu966=
XM_005265371.3:c.3192G>C	XP_005265428.1:p.Leu1064=
XM_011533993.2:c.3189G>C	XP_011532295.1:p.Leu1063=
XM_011533994.2:c.2898G>C	XP_011532296.1:p.Leu966=
NM_006514.4:c.3183G>C MANE Select	NP_006505.4:p.Leu1061=