Canonical Allele Identifier: CA363043352
Gene: ZFP57 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29672739G>T
GRCh37 chr6:g.29640516G>T
Revel Score:
ENST00000488757 0.297
ENST00000376881 0.297
ENST00000376883 (MANE Select) 0.297
gnomAD v4:
chr6-29672739-G-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
dbSNP:
79020217
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29672739G>T , CM000668.2:g.29672739G>T GRCh38
NC_000006.11:g.29640516G>T , CM000668.1:g.29640516G>T GRCh37
NC_000006.10:g.29748495G>T NCBI36
NG_013045.1:g.9416C>A
NG_031873.1:g.20759G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376883.2:c.1372C>A MANE Select ENSP00000366080.2:p.His458Asn
ENST00000488757.6:c.1156C>A ENSP00000418259.2:p.His386Asn
ENST00000376881.4:c.1120C>A ENSP00000366078.4:p.His374Asn
ENST00000376883.1:c.1312C>A ENSP00000366080.1:p.His438Asn
ENST00000488757.5:c.1372C>A ENSP00000418259.1:p.His458Asn
NM_001109809.2:c.1372C>A NP_001103279.2:p.His458Asn
XM_006715087.2:c.1156C>A XP_006715150.1:p.His386Asn
XM_011514570.1:c.1372C>A XP_011512872.1:p.His458Asn
NM_001109809.3:c.1372C>A NP_001103279.2:p.His458Asn
NM_001366333.1:c.1156C>A NP_001353262.1:p.His386Asn
NM_001109809.4:c.1372C>A NP_001103279.2:p.His458Asn
NM_001366333.2:c.1156C>A NP_001353262.1:p.His386Asn
NM_001109809.5:c.1372C>A MANE Select NP_001103279.2:p.His458Asn
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