Canonical Allele Identifier: CA334653

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 188338
• ClinVar RCV Id: RCV000168361 ; RCV000421762 ; RCV000660475 ; RCV001079938 ; RCV001847797
• dbSNP Id: rs151166497
• ExAC: 14:68220861 G / A
• gnomAD v2: 14-68220861-G-A
• gnomAD v3: 14-67754144-G-A
• gnomAD v4: 14-67754144-G-A
• MyVariant Identifiers: chr14:g.68220861G>A (hg19) ; chr14:g.67754144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67754144G>A , CM000676.2:g.67754144G>A	GRCh38
NC_000014.8:g.68220861G>A , CM000676.1:g.68220861G>A	GRCh37
NC_000014.7:g.67290614G>A	NCBI36
NG_011836.1:g.67446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.7055C>T MANE Select	ENSP00000251119.5:p.Thr2352Ile
ENST00000676512.1:c.7073C>T	ENSP00000504552.1:p.Thr2358Ile
ENST00000676620.1:c.6977C>T	ENSP00000504587.1:p.Thr2326Ile
ENST00000678386.1:c.7100C>T	ENSP00000503677.1:p.Thr2367Ile
ENST00000347230.8:c.7055C>T	ENSP00000251119.5:p.Thr2352Ile
ENST00000394455.6:n.2318C>T
ENST00000554523.5:n.7810C>T
ENST00000554557.5:c.*5033C>T	ENSP00000450431.1:n.*5033C>T
ENST00000554783.1:n.743C>T
ENST00000557306.1:c.593C>T	ENSP00000452142.1:p.Thr198Ile
NM_015346.3:c.7055C>T	NP_056161.2:p.Thr2352Ile
XM_006720093.2:c.7055C>T	XP_006720156.1:p.Thr2352Ile
XM_011536606.1:c.5546C>T	XP_011534908.1:p.Thr1849Ile
XM_011536607.1:c.4730C>T	XP_011534909.1:p.Thr1577Ile
XM_011536608.1:c.4637C>T	XP_011534910.1:p.Thr1546Ile
XM_017021124.1:c.7073C>T	XP_016876613.1:p.Thr2358Ile
XM_017021125.1:c.7073C>T	XP_016876614.1:p.Thr2358Ile
XM_017021126.1:c.5564C>T	XP_016876615.1:p.Thr1855Ile
XM_017021127.2:c.4748C>T	XP_016876616.1:p.Thr1583Ile
XM_017021128.1:c.4655C>T	XP_016876617.1:p.Thr1552Ile
NM_015346.4:c.7055C>T MANE Select	NP_056161.2:p.Thr2352Ile