Canonical Allele Identifier: CA397124681

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 1403112
• ClinVar RCV Id: RCV001908889 ; RCV003382708
• dbSNP Id: rs2142314561
• MyVariant Identifiers: chr16:g.88503650C>A (hg19) ; chr16:g.88437242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437242C>A , CM000678.2:g.88437242C>A	GRCh38
NC_000016.9:g.88503650C>A , CM000678.1:g.88503650C>A	GRCh37
NC_000016.8:g.87031151C>A	NCBI36
NG_012236.2:g.14772C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.9772C>A MANE Select	ENSP00000456500.2:p.Gln3258Lys
ENST00000437464.1:c.9688C>A	ENSP00000402343.1:p.Gln3230Lys
ENST00000565624.1:c.9772C>A	ENSP00000456500.1:p.Gln3258Lys
NM_001127464.2:c.9688C>A	NP_001120936.2:p.Gln3230Lys
XM_011523386.1:c.9772C>A	XP_011521688.1:p.Gln3258Lys
XM_011523387.1:c.9772C>A	XP_011521689.1:p.Gln3258Lys
XM_011523388.1:c.9772C>A	XP_011521690.1:p.Gln3258Lys
XM_017023784.1:c.9772C>A	XP_016879273.1:p.Gln3258Lys
XM_017023785.1:c.9772C>A	XP_016879274.1:p.Gln3258Lys
NM_001367624.1:c.9772C>A	NP_001354553.1:p.Gln3258Lys
NM_001367624.2:c.9772C>A MANE Select	NP_001354553.1:p.Gln3258Lys