Canonical Allele Identifier: CA151301
Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 126931
ClinVar RCV Id: RCV000114787
dbSNP Id: rs273585616

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88427547G>C , CM000678.2:g.88427547G>C GRCh38
NC_000016.9:g.88493955G>C , CM000678.1:g.88493955G>C GRCh37
NC_000016.8:g.87021456G>C NCBI36
NG_012236.2:g.5077G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000565624.3:c.77G>C MANE Select ENSP00000456500.2:p.Ser26Thr
ENST00000437464.1:c.77G>C ENSP00000402343.1:p.Ser26Thr
ENST00000565624.1:c.77G>C ENSP00000456500.1:p.Ser26Thr
NM_001127464.2:c.77G>C NP_001120936.2:p.Ser26Thr
XM_011523386.1:c.77G>C XP_011521688.1:p.Ser26Thr
XM_011523387.1:c.77G>C XP_011521689.1:p.Ser26Thr
XM_011523388.1:c.77G>C XP_011521690.1:p.Ser26Thr
XM_017023784.1:c.77G>C XP_016879273.1:p.Ser26Thr
XM_017023785.1:c.77G>C XP_016879274.1:p.Ser26Thr
XR_002957934.1:n.250+2417C>G
NM_001367624.1:c.77G>C NP_001354553.1:p.Ser26Thr
NM_001367624.2:c.77G>C MANE Select NP_001354553.1:p.Ser26Thr