Canonical Allele Identifier: CA397124627

Gene: ZNF469

Linked Data

• dbSNP Id: rs1323291981
• MyVariant Identifiers: chr16:g.88503626G>C (hg19) ; chr16:g.88437218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437218G>C , CM000678.2:g.88437218G>C	GRCh38
NC_000016.9:g.88503626G>C , CM000678.1:g.88503626G>C	GRCh37
NC_000016.8:g.87031127G>C	NCBI36
NG_012236.2:g.14748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9748G>C MANE Select	ENSP00000456500.2:p.Gly3250Arg
ENST00000437464.1:c.9664G>C	ENSP00000402343.1:p.Gly3222Arg
ENST00000565624.1:c.9748G>C	ENSP00000456500.1:p.Gly3250Arg
NM_001127464.2:c.9664G>C	NP_001120936.2:p.Gly3222Arg
XM_011523386.1:c.9748G>C	XP_011521688.1:p.Gly3250Arg
XM_011523387.1:c.9748G>C	XP_011521689.1:p.Gly3250Arg
XM_011523388.1:c.9748G>C	XP_011521690.1:p.Gly3250Arg
XM_017023784.1:c.9748G>C	XP_016879273.1:p.Gly3250Arg
XM_017023785.1:c.9748G>C	XP_016879274.1:p.Gly3250Arg
NM_001367624.1:c.9748G>C	NP_001354553.1:p.Gly3250Arg
NM_001367624.2:c.9748G>C MANE Select	NP_001354553.1:p.Gly3250Arg