Canonical Allele Identifier: CA251583
Gene: ZFP57 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29673368C>T
GRCh37 chr6:g.29641145C>T
Revel Score:
ENST00000488757 0.130
ENST00000376881 0.130
ENST00000376883 (MANE Select) 0.130
gnomAD v2:
6:29641145 C / T
gnomAD v3:
6:29673368 C / T
gnomAD v4:
chr6-29673368-C-T
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000000755
ClinVar Variation:
719
dbSNP:
77625743
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29673368C>T , CM000668.2:g.29673368C>T GRCh38
NC_000006.11:g.29641145C>T , CM000668.1:g.29641145C>T GRCh37
NC_000006.10:g.29749124C>T NCBI36
NG_013045.1:g.8787G>A
NG_031873.1:g.21388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.743G>A MANE Select ENSP00000366080.2:p.Arg248His
ENST00000488757.6:c.527G>A ENSP00000418259.2:p.Arg176His
ENST00000376881.4:c.491G>A ENSP00000366078.4:p.Arg164His
ENST00000376883.1:c.683G>A ENSP00000366080.1:p.Arg228His
ENST00000488757.5:c.743G>A ENSP00000418259.1:p.Arg248His
NM_001109809.2:c.743G>A NP_001103279.2:p.Arg248His
XM_006715087.2:c.527G>A XP_006715150.1:p.Arg176His
XM_011514570.1:c.743G>A XP_011512872.1:p.Arg248His
NM_001109809.3:c.743G>A NP_001103279.2:p.Arg248His
NM_001366333.1:c.527G>A NP_001353262.1:p.Arg176His
NM_001109809.4:c.743G>A NP_001103279.2:p.Arg248His
NM_001366333.2:c.527G>A NP_001353262.1:p.Arg176His
NM_001109809.5:c.743G>A MANE Select NP_001103279.2:p.Arg248His
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