Canonical Allele Identifier: CA16620287
Gene: ZNF469 HGNC NCBI

Linked Data

ClinVar Variation Id: 424106
ClinVar RCV Id: RCV000487286
dbSNP Id: rs1064796800
MyVariant Identifiers: chr16:g.88503945T>G (hg19) chr16:g.88437537T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88437537T>G , CM000678.2:g.88437537T>G GRCh38
NC_000016.9:g.88503945T>G , CM000678.1:g.88503945T>G GRCh37
NC_000016.8:g.87031446T>G NCBI36
NG_012236.2:g.15067T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000565624.3:c.10067T>G MANE Select ENSP00000456500.2:p.Leu3356Arg
ENST00000437464.1:c.9983T>G ENSP00000402343.1:p.Leu3328Arg
ENST00000565624.1:c.10067T>G ENSP00000456500.1:p.Leu3356Arg
NM_001127464.2:c.9983T>G NP_001120936.2:p.Leu3328Arg
XM_011523386.1:c.10067T>G XP_011521688.1:p.Leu3356Arg
XM_011523387.1:c.10067T>G XP_011521689.1:p.Leu3356Arg
XM_011523388.1:c.10067T>G XP_011521690.1:p.Leu3356Arg
XM_017023784.1:c.10067T>G XP_016879273.1:p.Leu3356Arg
XM_017023785.1:c.10067T>G XP_016879274.1:p.Leu3356Arg
NM_001367624.1:c.10067T>G NP_001354553.1:p.Leu3356Arg
NM_001367624.2:c.10067T>G MANE Select NP_001354553.1:p.Leu3356Arg
Search 100 bp 5'
Search 100 bp 3'