Canonical Allele Identifier: CA338151

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 215890
• ClinVar RCV Id: RCV000198741 ; RCV000343187 ; RCV001116681 ; RCV001705152 ; RCV001847897 ; RCV003937753
• dbSNP Id: rs139163400
• ExAC: 14:68229462 A / G
• gnomAD v2: 14-68229462-A-G
• gnomAD v3: 14-67762745-A-G
• gnomAD v4: 14-67762745-A-G
• MyVariant Identifiers: chr14:g.68229462A>G (hg19) ; chr14:g.67762745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67762745A>G , CM000676.2:g.67762745A>G	GRCh38
NC_000014.8:g.68229462A>G , CM000676.1:g.68229462A>G	GRCh37
NC_000014.7:g.67299215A>G	NCBI36
NG_011836.1:g.58845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.6086T>C MANE Select	ENSP00000251119.5:p.Ile2029Thr
ENST00000676512.1:c.6104T>C	ENSP00000504552.1:p.Ile2035Thr
ENST00000676620.1:c.6008T>C	ENSP00000504587.1:p.Ile2003Thr
ENST00000678386.1:c.6131T>C	ENSP00000503677.1:p.Ile2044Thr
ENST00000347230.8:c.6086T>C	ENSP00000251119.5:p.Ile2029Thr
ENST00000394455.6:n.1349T>C
ENST00000554523.5:n.6223T>C
ENST00000554557.5:c.*4064T>C	ENSP00000450431.1:n.*4064T>C
ENST00000555452.1:c.6086T>C	ENSP00000450603.1:p.Ile2029Thr
NM_015346.3:c.6086T>C	NP_056161.2:p.Ile2029Thr
XM_006720093.2:c.6086T>C	XP_006720156.1:p.Ile2029Thr
XM_011536606.1:c.4577T>C	XP_011534908.1:p.Ile1526Thr
XM_011536607.1:c.3761T>C	XP_011534909.1:p.Ile1254Thr
XM_011536608.1:c.3668T>C	XP_011534910.1:p.Ile1223Thr
XM_017021124.1:c.6104T>C	XP_016876613.1:p.Ile2035Thr
XM_017021125.1:c.6104T>C	XP_016876614.1:p.Ile2035Thr
XM_017021126.1:c.4595T>C	XP_016876615.1:p.Ile1532Thr
XM_017021127.2:c.3779T>C	XP_016876616.1:p.Ile1260Thr
XM_017021128.1:c.3686T>C	XP_016876617.1:p.Ile1229Thr
NM_015346.4:c.6086T>C MANE Select	NP_056161.2:p.Ile2029Thr