Canonical Allele Identifier: CA174711

Gene: ZP4

Linked Data

• ClinVar Variation Id: 161747
• ClinVar RCV Id: RCV000149283
• dbSNP Id: rs193920872
• ExAC: 1:238053438 C / T
• gnomAD v2: 1-238053438-C-T
• gnomAD v3: 1-237890138-C-T
• gnomAD v4: 1-237890138-C-T
• COSMIC: COSM1179890
• MyVariant Identifiers: chr1:g.238053438C>T (hg19) ; chr1:g.237890138C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237890138C>T , CM000663.2:g.237890138C>T	GRCh38
NC_000001.10:g.238053438C>T , CM000663.1:g.238053438C>T	GRCh37
NC_000001.9:g.236120061C>T	NCBI36
NG_008799.2:g.852737C>T
NG_046920.1:g.5785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366570.5:c.214G>A MANE Select	ENSP00000355529.4:p.Asp72Asn
ENST00000366570.4:c.214G>A	ENSP00000355529.4:p.Asp72Asn
ENST00000611898.4:c.214G>A	ENSP00000482304.1:p.Asp72Asn
NM_021186.3:c.214G>A	NP_067009.1:p.Asp72Asn
NR_027247.2:n.410+7570C>T
NM_021186.4:c.214G>A	NP_067009.1:p.Asp72Asn
NM_021186.5:c.214G>A MANE Select	NP_067009.1:p.Asp72Asn