Canonical Allele Identifier: CA8225426
Community Standard Title: NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88436838G>A , CM000678.2:g.88436838G>A GRCh38
NC_000016.9:g.88503246G>A , CM000678.1:g.88503246G>A GRCh37
NC_000016.8:g.87030747G>A NCBI36
NG_012236.2:g.14368G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.9368G>A MANE Select NP_001354553.1:p.Arg3123His
ENST00000565624.3:c.9368G>A MANE Select ENSP00000456500.2:p.Arg3123His
NM_001127464.2:c.9284G>A NP_001120936.2:p.Arg3095His
NM_001367624.1:c.9368G>A NP_001354553.1:p.Arg3123His
ENST00000437464.1:c.9284G>A ENSP00000402343.1:p.Arg3095His
ENST00000565624.1:c.9368G>A ENSP00000456500.1:p.Arg3123His
XM_011523386.1:c.9368G>A XP_011521688.1:p.Arg3123His
XM_011523387.1:c.9368G>A XP_011521689.1:p.Arg3123His
XM_011523388.1:c.9368G>A XP_011521690.1:p.Arg3123His
XM_017023784.1:c.9368G>A XP_016879273.1:p.Arg3123His
XM_017023785.1:c.9368G>A XP_016879274.1:p.Arg3123His