Canonical Allele Identifier: CA10638589
Community Standard Title: NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88430343T>C , CM000678.2:g.88430343T>C GRCh38
NC_000016.9:g.88496751T>C , CM000678.1:g.88496751T>C GRCh37
NC_000016.8:g.87024252T>C NCBI36
NG_012236.2:g.7873T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.2873T>C MANE Select NP_001354553.1:p.Leu958Pro
ENST00000565624.3:c.2873T>C MANE Select ENSP00000456500.2:p.Leu958Pro
NM_001127464.2:c.2873T>C NP_001120936.2:p.Leu958Pro
NM_001367624.1:c.2873T>C NP_001354553.1:p.Leu958Pro
ENST00000437464.1:c.2873T>C ENSP00000402343.1:p.Leu958Pro
ENST00000565624.1:c.2873T>C ENSP00000456500.1:p.Leu958Pro
XM_011523386.1:c.2873T>C XP_011521688.1:p.Leu958Pro
XM_011523387.1:c.2873T>C XP_011521689.1:p.Leu958Pro
XM_011523388.1:c.2873T>C XP_011521690.1:p.Leu958Pro
XM_017023784.1:c.2873T>C XP_016879273.1:p.Leu958Pro
XM_017023785.1:c.2873T>C XP_016879274.1:p.Leu958Pro
XR_002957934.1:n.20A>G