Canonical Allele Identifier: CA151309

Gene: ZNF469

Linked Data

• ClinVar Variation Id: 126935
• ClinVar RCV Id: RCV000114791 ; RCV000520139 ; RCV002381415 ; RCV002483182
• dbSNP Id: rs273585627
• gnomAD v2: 16-88503797-A-G
• gnomAD v3: 16-88437389-A-G
• gnomAD v4: 16-88437389-A-G
• MyVariant Identifiers: chr16:g.88503797A>G (hg19) ; chr16:g.88437389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437389A>G , CM000678.2:g.88437389A>G	GRCh38
NC_000016.9:g.88503797A>G , CM000678.1:g.88503797A>G	GRCh37
NC_000016.8:g.87031298A>G	NCBI36
NG_012236.2:g.14919A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000565624.3:c.9919A>G MANE Select	ENSP00000456500.2:p.Thr3307Ala
ENST00000437464.1:c.9835A>G	ENSP00000402343.1:p.Thr3279Ala
ENST00000565624.1:c.9919A>G	ENSP00000456500.1:p.Thr3307Ala
NM_001127464.2:c.9835A>G	NP_001120936.2:p.Thr3279Ala
XM_011523386.1:c.9919A>G	XP_011521688.1:p.Thr3307Ala
XM_011523387.1:c.9919A>G	XP_011521689.1:p.Thr3307Ala
XM_011523388.1:c.9919A>G	XP_011521690.1:p.Thr3307Ala
XM_017023784.1:c.9919A>G	XP_016879273.1:p.Thr3307Ala
XM_017023785.1:c.9919A>G	XP_016879274.1:p.Thr3307Ala
NM_001367624.1:c.9919A>G	NP_001354553.1:p.Thr3307Ala
NM_001367624.2:c.9919A>G MANE Select	NP_001354553.1:p.Thr3307Ala