Canonical Allele Identifier: CA2016088
Gene: ZNF804A HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.184937516C>A , CM000664.2:g.184937516C>A GRCh38
NC_000002.11:g.185802243C>A , CM000664.1:g.185802243C>A GRCh37
NC_000002.10:g.185510488C>A NCBI36
NG_046950.1:g.344151C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302277.7:c.2120C>A MANE Select ENSP00000303252.6:p.Thr707Lys
ENST00000302277.6:c.2120C>A ENSP00000303252.6:p.Thr707Lys
ENST00000613975.1:c.1865C>A ENSP00000483032.1:p.Thr622Lys
NM_194250.1:c.2120C>A NP_919226.1:p.Thr707Lys
NM_194250.2:c.2120C>A MANE Select NP_919226.1:p.Thr707Lys