Canonical Allele Identifier: CA363043147
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs1460618831
gnomAD v2: 6-29640433-G-T
gnomAD v4: 6-29672656-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672656G>T , CM000668.2:g.29672656G>T GRCh38
NC_000006.11:g.29640433G>T , CM000668.1:g.29640433G>T GRCh37
NC_000006.10:g.29748412G>T NCBI36
NG_013045.1:g.9499C>A
NG_031873.1:g.20676G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1455C>A MANE Select ENSP00000366080.2:p.Phe485Leu
ENST00000488757.6:c.1239C>A ENSP00000418259.2:p.Phe413Leu
ENST00000376881.4:c.1203C>A ENSP00000366078.4:p.Phe401Leu
ENST00000376883.1:c.1395C>A ENSP00000366080.1:p.Phe465Leu
ENST00000488757.5:c.1455C>A ENSP00000418259.1:p.Phe485Leu
NM_001109809.2:c.1455C>A NP_001103279.2:p.Phe485Leu
XM_006715087.2:c.1239C>A XP_006715150.1:p.Phe413Leu
XM_011514570.1:c.1455C>A XP_011512872.1:p.Phe485Leu
NM_001109809.3:c.1455C>A NP_001103279.2:p.Phe485Leu
NM_001366333.1:c.1239C>A NP_001353262.1:p.Phe413Leu
NM_001109809.4:c.1455C>A NP_001103279.2:p.Phe485Leu
NM_001366333.2:c.1239C>A NP_001353262.1:p.Phe413Leu
NM_001109809.5:c.1455C>A MANE Select NP_001103279.2:p.Phe485Leu