Canonical Allele Identifier: CA337036

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 215889
• ClinVar RCV Id: RCV000197212 ; RCV000298542 ; RCV001847896 ; RCV003401078 ; RCV003917810
• dbSNP Id: rs534497092
• ExAC: 14:68249545 C / T
• gnomAD v2: 14-68249545-C-T
• gnomAD v3: 14-67782828-C-T
• gnomAD v4: 14-67782828-C-T
• MyVariant Identifiers: chr14:g.68249545C>T (hg19) ; chr14:g.67782828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782828C>T , CM000676.2:g.67782828C>T	GRCh38
NC_000014.8:g.68249545C>T , CM000676.1:g.68249545C>T	GRCh37
NC_000014.7:g.67319298C>T	NCBI36
NG_011836.1:g.38762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4324G>A MANE Select	ENSP00000251119.5:p.Asp1442Asn
ENST00000676512.1:c.4324G>A	ENSP00000504552.1:p.Asp1442Asn
ENST00000676620.1:c.4324G>A	ENSP00000504587.1:p.Asp1442Asn
ENST00000678386.1:c.4324G>A	ENSP00000503677.1:p.Asp1442Asn
ENST00000347230.8:c.4324G>A	ENSP00000251119.5:p.Asp1442Asn
ENST00000554523.5:n.4461G>A
ENST00000554557.5:c.*2350+271G>A	ENSP00000450431.1:n.*2350+271G>A
ENST00000555452.1:c.4324G>A	ENSP00000450603.1:p.Asp1442Asn
NM_015346.3:c.4324G>A	NP_056161.2:p.Asp1442Asn
XM_006720093.2:c.4324G>A	XP_006720156.1:p.Asp1442Asn
XM_011536606.1:c.2815G>A	XP_011534908.1:p.Asp939Asn
XM_011536607.1:c.1999G>A	XP_011534909.1:p.Asp667Asn
XM_011536608.1:c.1906G>A	XP_011534910.1:p.Asp636Asn
XM_011536609.1:c.4324G>A	XP_011534911.1:p.Asp1442Asn
XM_011536609.2:c.4324G>A	XP_011534911.1:p.Asp1442Asn
XM_017021124.1:c.4324G>A	XP_016876613.1:p.Asp1442Asn
XM_017021125.1:c.4324G>A	XP_016876614.1:p.Asp1442Asn
XM_017021126.1:c.2815G>A	XP_016876615.1:p.Asp939Asn
XM_017021127.2:c.1999G>A	XP_016876616.1:p.Asp667Asn
XM_017021128.1:c.1906G>A	XP_016876617.1:p.Asp636Asn
NM_015346.4:c.4324G>A MANE Select	NP_056161.2:p.Asp1442Asn