Canonical Allele Identifier: CA390170114

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 1346087
• ClinVar RCV Id: RCV002029833
• dbSNP Id: rs751803624
• gnomAD v4: 14-67782829-G-T
• MyVariant Identifiers: chr14:g.68249546G>T (hg19) ; chr14:g.67782829G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782829G>T , CM000676.2:g.67782829G>T	GRCh38
NC_000014.8:g.68249546G>T , CM000676.1:g.68249546G>T	GRCh37
NC_000014.7:g.67319299G>T	NCBI36
NG_011836.1:g.38761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4323C>A MANE Select	ENSP00000251119.5:p.Asp1441Glu
ENST00000676512.1:c.4323C>A	ENSP00000504552.1:p.Asp1441Glu
ENST00000676620.1:c.4323C>A	ENSP00000504587.1:p.Asp1441Glu
ENST00000678386.1:c.4323C>A	ENSP00000503677.1:p.Asp1441Glu
ENST00000347230.8:c.4323C>A	ENSP00000251119.5:p.Asp1441Glu
ENST00000554523.5:n.4460C>A
ENST00000554557.5:c.*2350+270C>A	ENSP00000450431.1:n.*2350+270C>A
ENST00000555452.1:c.4323C>A	ENSP00000450603.1:p.Asp1441Glu
NM_015346.3:c.4323C>A	NP_056161.2:p.Asp1441Glu
XM_006720093.2:c.4323C>A	XP_006720156.1:p.Asp1441Glu
XM_011536606.1:c.2814C>A	XP_011534908.1:p.Asp938Glu
XM_011536607.1:c.1998C>A	XP_011534909.1:p.Asp666Glu
XM_011536608.1:c.1905C>A	XP_011534910.1:p.Asp635Glu
XM_011536609.1:c.4323C>A	XP_011534911.1:p.Asp1441Glu
XM_011536609.2:c.4323C>A	XP_011534911.1:p.Asp1441Glu
XM_017021124.1:c.4323C>A	XP_016876613.1:p.Asp1441Glu
XM_017021125.1:c.4323C>A	XP_016876614.1:p.Asp1441Glu
XM_017021126.1:c.2814C>A	XP_016876615.1:p.Asp938Glu
XM_017021127.2:c.1998C>A	XP_016876616.1:p.Asp666Glu
XM_017021128.1:c.1905C>A	XP_016876617.1:p.Asp635Glu
NM_015346.4:c.4323C>A MANE Select	NP_056161.2:p.Asp1441Glu