Canonical Allele Identifier: CA8225387
Community Standard Title: NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88436401C>G , CM000678.2:g.88436401C>G GRCh38
NC_000016.9:g.88502809C>G , CM000678.1:g.88502809C>G GRCh37
NC_000016.8:g.87030310C>G NCBI36
NG_012236.2:g.13931C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.8931C>G MANE Select NP_001354553.1:p.His2977Gln
ENST00000565624.3:c.8931C>G MANE Select ENSP00000456500.2:p.His2977Gln
NM_001127464.2:c.8847C>G NP_001120936.2:p.His2949Gln
NM_001367624.1:c.8931C>G NP_001354553.1:p.His2977Gln
ENST00000437464.1:c.8847C>G ENSP00000402343.1:p.His2949Gln
ENST00000565624.1:c.8931C>G ENSP00000456500.1:p.His2977Gln
XM_011523386.1:c.8931C>G XP_011521688.1:p.His2977Gln
XM_011523387.1:c.8931C>G XP_011521689.1:p.His2977Gln
XM_011523388.1:c.8931C>G XP_011521690.1:p.His2977Gln
XM_017023784.1:c.8931C>G XP_016879273.1:p.His2977Gln
XM_017023785.1:c.8931C>G XP_016879274.1:p.His2977Gln