Canonical Allele Identifier: CA433138492
Gene: SCN10A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38766710C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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