Canonical Allele Identifier: CA114478

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 752
• ClinVar RCV Id: RCV000000788
• dbSNP Id: rs118204050
• MyVariant Identifiers: chr14:g.68268958G>A (hg19) ; chr14:g.67802241G>A (hg38)
• PubMed: PMID:18098276 ; PMID:18394578

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67802241G>A , CM000676.2:g.67802241G>A	GRCh38
NC_000014.8:g.68268958G>A , CM000676.1:g.68268958G>A	GRCh37
NC_000014.7:g.67338711G>A	NCBI36
NG_011836.1:g.19349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.1477C>T MANE Select	ENSP00000251119.5:p.Gln493Ter
ENST00000676512.1:c.1477C>T	ENSP00000504552.1:p.Gln493Ter
ENST00000676620.1:c.1477C>T	ENSP00000504587.1:p.Gln493Ter
ENST00000677026.1:c.1435+1860C>T	ENSP00000503710.1:n.1435+1860C>T
ENST00000678382.1:c.*472C>T	ENSP00000504130.1:n.*472C>T
ENST00000678386.1:c.1477C>T	ENSP00000503677.1:p.Gln493Ter
ENST00000347230.8:c.1477C>T	ENSP00000251119.5:p.Gln493Ter
ENST00000554523.5:n.1614C>T
ENST00000554557.5:c.1271+2976C>T	ENSP00000450431.1:n.1271+2976C>T
ENST00000555452.1:c.1477C>T	ENSP00000450603.1:p.Gln493Ter
ENST00000557366.5:n.1523C>T
ENST00000557407.1:n.1612C>T
NM_015346.3:c.1477C>T	NP_056161.2:p.Gln493Ter
XM_006720093.2:c.1477C>T	XP_006720156.1:p.Gln493Ter
XM_011536606.1:c.-33C>T	XP_011534908.1:n.-33C>T
XM_011536609.1:c.1477C>T	XP_011534911.1:p.Gln493Ter
XM_011536609.2:c.1477C>T	XP_011534911.1:p.Gln493Ter
XM_017021124.1:c.1477C>T	XP_016876613.1:p.Gln493Ter
XM_017021125.1:c.1477C>T	XP_016876614.1:p.Gln493Ter
XM_017021126.1:c.-33C>T	XP_016876615.1:n.-33C>T
NM_015346.4:c.1477C>T MANE Select	NP_056161.2:p.Gln493Ter