Canonical Allele Identifier: CA9565593
Gene: NTF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2411869
ClinVar RCV Id: RCV002779980
dbSNP Id: rs200675509
COSMIC: COSM124873

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49061373G>A , CM000681.2:g.49061373G>A GRCh38
NC_000019.9:g.49564630G>A , CM000681.1:g.49564630G>A GRCh37
NC_000019.8:g.54256442G>A NCBI36
NG_016289.1:g.7495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593537.2:c.625C>T MANE Select ENSP00000469455.1:p.Arg209Trp
ENST00000594938.2:c.625C>T ENSP00000512387.1:p.Arg209Trp
ENST00000595857.6:c.625C>T ENSP00000471508.2:p.Arg209Trp
ENST00000696088.1:c.625C>T ENSP00000512384.1:p.Arg209Trp
ENST00000696089.1:c.625C>T ENSP00000512385.1:p.Arg209Trp
ENST00000696090.1:c.625C>T ENSP00000512386.1:p.Arg209Trp
ENST00000696091.1:c.625C>T ENSP00000512388.1:p.Arg209Trp
ENST00000593537.1:c.625C>T ENSP00000469455.1:p.Arg209Trp
ENST00000599795.5:c.243+382C>T ENSP00000470689.1:n.243+382C>T
NM_006179.4:c.625C>T NP_006170.1:p.Arg209Trp
XM_005258962.2:c.625C>T XP_005259019.1:p.Arg209Trp
XM_006723232.2:c.625C>T XP_006723295.1:p.Arg209Trp
XM_011527008.1:c.655C>T XP_011525310.1:p.Arg219Trp
XM_011527009.1:c.625C>T XP_011525311.1:p.Arg209Trp
XM_011527010.1:c.625C>T XP_011525312.1:p.Arg209Trp
XM_005258962.3:c.625C>T XP_005259019.1:p.Arg209Trp
XM_006723232.3:c.625C>T XP_006723295.1:p.Arg209Trp
XM_011527008.2:c.655C>T XP_011525310.1:p.Arg219Trp
XM_011527009.2:c.625C>T XP_011525311.1:p.Arg209Trp
XM_011527010.2:c.625C>T XP_011525312.1:p.Arg209Trp
XR_001753693.1:n.670C>T
XR_001753694.1:n.670C>T
NM_001395489.1:c.625C>T NP_001382418.1:p.Arg209Trp
NM_006179.5:c.625C>T MANE Select NP_006170.1:p.Arg209Trp