Canonical Allele Identifier: CA10648295
Community Standard Title: NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88435287A>C , CM000678.2:g.88435287A>C GRCh38
NC_000016.9:g.88501695A>C , CM000678.1:g.88501695A>C GRCh37
NC_000016.8:g.87029196A>C NCBI36
NG_012236.2:g.12817A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.7817A>C MANE Select NP_001354553.1:p.Gln2606Pro
ENST00000565624.3:c.7817A>C MANE Select ENSP00000456500.2:p.Gln2606Pro
NM_001127464.2:c.7733A>C NP_001120936.2:p.Gln2578Pro
NM_001367624.1:c.7817A>C NP_001354553.1:p.Gln2606Pro
ENST00000437464.1:c.7733A>C ENSP00000402343.1:p.Gln2578Pro
ENST00000565624.1:c.7817A>C ENSP00000456500.1:p.Gln2606Pro
XM_011523386.1:c.7817A>C XP_011521688.1:p.Gln2606Pro
XM_011523387.1:c.7817A>C XP_011521689.1:p.Gln2606Pro
XM_011523388.1:c.7817A>C XP_011521690.1:p.Gln2606Pro
XM_017023784.1:c.7817A>C XP_016879273.1:p.Gln2606Pro
XM_017023785.1:c.7817A>C XP_016879274.1:p.Gln2606Pro