Canonical Allele Identifier: CA8224757

Gene: ZNF469

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88429740T>G , CM000678.2:g.88429740T>G	GRCh38
NC_000016.9:g.88496148T>G , CM000678.1:g.88496148T>G	GRCh37
NC_000016.8:g.87023649T>G	NCBI36
NG_012236.2:g.7270T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001367624.2:c.2270T>G MANE Select	NP_001354553.1:p.Leu757Arg
ENST00000565624.3:c.2270T>G MANE Select	ENSP00000456500.2:p.Leu757Arg
NM_001127464.2:c.2270T>G	NP_001120936.2:p.Leu757Arg
NM_001367624.1:c.2270T>G	NP_001354553.1:p.Leu757Arg
ENST00000437464.1:c.2270T>G	ENSP00000402343.1:p.Leu757Arg
ENST00000565624.1:c.2270T>G	ENSP00000456500.1:p.Leu757Arg
XM_011523386.1:c.2270T>G	XP_011521688.1:p.Leu757Arg
XM_011523387.1:c.2270T>G	XP_011521689.1:p.Leu757Arg
XM_011523388.1:c.2270T>G	XP_011521690.1:p.Leu757Arg
XM_017023784.1:c.2270T>G	XP_016879273.1:p.Leu757Arg
XM_017023785.1:c.2270T>G	XP_016879274.1:p.Leu757Arg
XR_002957934.1:n.250+224A>C