Canonical Allele Identifier: CA10648302
Community Standard Title: NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88436644G>A , CM000678.2:g.88436644G>A GRCh38
NC_000016.9:g.88503052G>A , CM000678.1:g.88503052G>A GRCh37
NC_000016.8:g.87030553G>A NCBI36
NG_012236.2:g.14174G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.9174G>A MANE Select NP_001354553.1:p.Leu3058=
ENST00000565624.3:c.9174G>A MANE Select ENSP00000456500.2:p.Leu3058=
NM_001127464.2:c.9090G>A NP_001120936.2:p.Leu3030=
NM_001367624.1:c.9174G>A NP_001354553.1:p.Leu3058=
ENST00000437464.1:c.9090G>A ENSP00000402343.1:p.Leu3030=
ENST00000565624.1:c.9174G>A ENSP00000456500.1:p.Leu3058=
XM_011523386.1:c.9174G>A XP_011521688.1:p.Leu3058=
XM_011523387.1:c.9174G>A XP_011521689.1:p.Leu3058=
XM_011523388.1:c.9174G>A XP_011521690.1:p.Leu3058=
XM_017023784.1:c.9174G>A XP_016879273.1:p.Leu3058=
XM_017023785.1:c.9174G>A XP_016879274.1:p.Leu3058=