Canonical Allele Identifier: CA3690679

Gene: ZFP57

Linked Data

• ClinVar Variation Id: 356211
• ClinVar RCV Id: RCV000344122 ; RCV001174428 ; RCV002058578 ; RCV002523562 ; RCV003902383
• dbSNP Id: rs184974475
• ExAC: 6:29640416 G / C
• gnomAD v2: 6-29640416-G-C
• gnomAD v3: 6-29672639-G-C
• gnomAD v4: 6-29672639-G-C
• MyVariant Identifiers: chr6:g.29640416G>C (hg19) ; chr6:g.29672639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29672639G>C , CM000668.2:g.29672639G>C	GRCh38
NC_000006.11:g.29640416G>C , CM000668.1:g.29640416G>C	GRCh37
NC_000006.10:g.29748395G>C	NCBI36
NG_013045.1:g.9516C>G
NG_031873.1:g.20659G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376883.2:c.1472C>G MANE Select	ENSP00000366080.2:p.Thr491Ser
ENST00000488757.6:c.1256C>G	ENSP00000418259.2:p.Thr419Ser
ENST00000376881.4:c.1220C>G	ENSP00000366078.4:p.Thr407Ser
ENST00000376883.1:c.1412C>G	ENSP00000366080.1:p.Thr471Ser
ENST00000488757.5:c.1472C>G	ENSP00000418259.1:p.Thr491Ser
NM_001109809.2:c.1472C>G	NP_001103279.2:p.Thr491Ser
XM_006715087.2:c.1256C>G	XP_006715150.1:p.Thr419Ser
XM_011514570.1:c.1472C>G	XP_011512872.1:p.Thr491Ser
NM_001109809.3:c.1472C>G	NP_001103279.2:p.Thr491Ser
NM_001366333.1:c.1256C>G	NP_001353262.1:p.Thr419Ser
NM_001109809.4:c.1472C>G	NP_001103279.2:p.Thr491Ser
NM_001366333.2:c.1256C>G	NP_001353262.1:p.Thr419Ser
NM_001109809.5:c.1472C>G MANE Select	NP_001103279.2:p.Thr491Ser