Canonical Allele Identifier: CA363043135

Gene: ZFP57

Linked Data

• dbSNP Id: rs1771740635
• gnomAD v4: 6-29672654-G-A
• MyVariant Identifiers: chr6:g.29640431G>A (hg19) ; chr6:g.29672654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29672654G>A , CM000668.2:g.29672654G>A	GRCh38
NC_000006.11:g.29640431G>A , CM000668.1:g.29640431G>A	GRCh37
NC_000006.10:g.29748410G>A	NCBI36
NG_013045.1:g.9501C>T
NG_031873.1:g.20674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376883.2:c.1457C>T MANE Select	ENSP00000366080.2:p.Ser486Phe
ENST00000488757.6:c.1241C>T	ENSP00000418259.2:p.Ser414Phe
ENST00000376881.4:c.1205C>T	ENSP00000366078.4:p.Ser402Phe
ENST00000376883.1:c.1397C>T	ENSP00000366080.1:p.Ser466Phe
ENST00000488757.5:c.1457C>T	ENSP00000418259.1:p.Ser486Phe
NM_001109809.2:c.1457C>T	NP_001103279.2:p.Ser486Phe
XM_006715087.2:c.1241C>T	XP_006715150.1:p.Ser414Phe
XM_011514570.1:c.1457C>T	XP_011512872.1:p.Ser486Phe
NM_001109809.3:c.1457C>T	NP_001103279.2:p.Ser486Phe
NM_001366333.1:c.1241C>T	NP_001353262.1:p.Ser414Phe
NM_001109809.4:c.1457C>T	NP_001103279.2:p.Ser486Phe
NM_001366333.2:c.1241C>T	NP_001353262.1:p.Ser414Phe
NM_001109809.5:c.1457C>T MANE Select	NP_001103279.2:p.Ser486Phe