Canonical Allele Identifier: CA8225237

Gene: ZNF469

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88434810G>C , CM000678.2:g.88434810G>C	GRCh38
NC_000016.9:g.88501218G>C , CM000678.1:g.88501218G>C	GRCh37
NC_000016.8:g.87028719G>C	NCBI36
NG_012236.2:g.12340G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001367624.2:c.7340G>C MANE Select	NP_001354553.1:p.Arg2447Thr
ENST00000565624.3:c.7340G>C MANE Select	ENSP00000456500.2:p.Arg2447Thr
NM_001127464.2:c.7256G>C	NP_001120936.2:p.Arg2419Thr
NM_001367624.1:c.7340G>C	NP_001354553.1:p.Arg2447Thr
ENST00000437464.1:c.7256G>C	ENSP00000402343.1:p.Arg2419Thr
ENST00000565624.1:c.7340G>C	ENSP00000456500.1:p.Arg2447Thr
XM_011523386.1:c.7340G>C	XP_011521688.1:p.Arg2447Thr
XM_011523387.1:c.7340G>C	XP_011521689.1:p.Arg2447Thr
XM_011523388.1:c.7340G>C	XP_011521690.1:p.Arg2447Thr
XM_017023784.1:c.7340G>C	XP_016879273.1:p.Arg2447Thr
XM_017023785.1:c.7340G>C	XP_016879274.1:p.Arg2447Thr