Canonical Allele Identifier: CA3690681
Gene: ZFP57 HGNC NCBI

Linked Data

dbSNP Id: rs779374306
gnomAD v2: 6-29640461-C-T
gnomAD v3: 6-29672684-C-T
gnomAD v4: 6-29672684-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672684C>T , CM000668.2:g.29672684C>T GRCh38
NC_000006.11:g.29640461C>T , CM000668.1:g.29640461C>T GRCh37
NC_000006.10:g.29748440C>T NCBI36
NG_013045.1:g.9471G>A
NG_031873.1:g.20704C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1427G>A MANE Select ENSP00000366080.2:p.Arg476Gln
ENST00000488757.6:c.1211G>A ENSP00000418259.2:p.Arg404Gln
ENST00000376881.4:c.1175G>A ENSP00000366078.4:p.Arg392Gln
ENST00000376883.1:c.1367G>A ENSP00000366080.1:p.Arg456Gln
ENST00000488757.5:c.1427G>A ENSP00000418259.1:p.Arg476Gln
NM_001109809.2:c.1427G>A NP_001103279.2:p.Arg476Gln
XM_006715087.2:c.1211G>A XP_006715150.1:p.Arg404Gln
XM_011514570.1:c.1427G>A XP_011512872.1:p.Arg476Gln
NM_001109809.3:c.1427G>A NP_001103279.2:p.Arg476Gln
NM_001366333.1:c.1211G>A NP_001353262.1:p.Arg404Gln
NM_001109809.4:c.1427G>A NP_001103279.2:p.Arg476Gln
NM_001366333.2:c.1211G>A NP_001353262.1:p.Arg404Gln
NM_001109809.5:c.1427G>A MANE Select NP_001103279.2:p.Arg476Gln