Canonical Allele Identifier: CA397125524

Gene: ZNF469

Linked Data

• gnomAD v4: 16-88437519-T-C
• MyVariant Identifiers: chr16:g.88503927T>C (hg19) ; chr16:g.88437519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88437519T>C , CM000678.2:g.88437519T>C	GRCh38
NC_000016.9:g.88503927T>C , CM000678.1:g.88503927T>C	GRCh37
NC_000016.8:g.87031428T>C	NCBI36
NG_012236.2:g.15049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565624.3:c.10049T>C MANE Select	ENSP00000456500.2:p.Phe3350Ser
ENST00000437464.1:c.9965T>C	ENSP00000402343.1:p.Phe3322Ser
ENST00000565624.1:c.10049T>C	ENSP00000456500.1:p.Phe3350Ser
NM_001127464.2:c.9965T>C	NP_001120936.2:p.Phe3322Ser
XM_011523386.1:c.10049T>C	XP_011521688.1:p.Phe3350Ser
XM_011523387.1:c.10049T>C	XP_011521689.1:p.Phe3350Ser
XM_011523388.1:c.10049T>C	XP_011521690.1:p.Phe3350Ser
XM_017023784.1:c.10049T>C	XP_016879273.1:p.Phe3350Ser
XM_017023785.1:c.10049T>C	XP_016879274.1:p.Phe3350Ser
NM_001367624.1:c.10049T>C	NP_001354553.1:p.Phe3350Ser
NM_001367624.2:c.10049T>C MANE Select	NP_001354553.1:p.Phe3350Ser