Canonical Allele Identifier: CA7239496

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313887
• ClinVar RCV Id: RCV000292372 ; RCV000438168 ; RCV002056409 ; RCV003401318
• dbSNP Id: rs140117984
• ExAC: 14:68238751 C / T
• gnomAD v2: 14-68238751-C-T
• gnomAD v3: 14-67772034-C-T
• gnomAD v4: 14-67772034-C-T
• MyVariant Identifiers: chr14:g.68238751C>T (hg19) ; chr14:g.67772034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67772034C>T , CM000676.2:g.67772034C>T	GRCh38
NC_000014.8:g.68238751C>T , CM000676.1:g.68238751C>T	GRCh37
NC_000014.7:g.67308504C>T	NCBI36
NG_011836.1:g.49556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.5484+13G>A MANE Select	ENSP00000251119.5:n.5484+13G>A
ENST00000676512.1:c.5502+13G>A	ENSP00000504552.1:n.5502+13G>A
ENST00000676620.1:c.5406+13G>A	ENSP00000504587.1:n.5406+13G>A
ENST00000678386.1:c.5529+13G>A	ENSP00000503677.1:n.5529+13G>A
ENST00000347230.8:c.5484+13G>A	ENSP00000251119.5:n.5484+13G>A
ENST00000554523.5:n.5621+13G>A
ENST00000554557.5:c.*3462+13G>A	ENSP00000450431.1:n.*3462+13G>A
ENST00000555452.1:c.5484+13G>A	ENSP00000450603.1:n.5484+13G>A
NM_015346.3:c.5484+13G>A	NP_056161.2:n.5484+13G>A
XM_006720093.2:c.5484+13G>A	XP_006720156.1:n.5484+13G>A
XM_011536606.1:c.3975+13G>A	XP_011534908.1:n.3975+13G>A
XM_011536607.1:c.3159+13G>A	XP_011534909.1:n.3159+13G>A
XM_011536608.1:c.3066+13G>A	XP_011534910.1:n.3066+13G>A
XM_017021124.1:c.5502+13G>A	XP_016876613.1:n.5502+13G>A
XM_017021125.1:c.5502+13G>A	XP_016876614.1:n.5502+13G>A
XM_017021126.1:c.3993+13G>A	XP_016876615.1:n.3993+13G>A
XM_017021127.2:c.3177+13G>A	XP_016876616.1:n.3177+13G>A
XM_017021128.1:c.3084+13G>A	XP_016876617.1:n.3084+13G>A
NM_015346.4:c.5484+13G>A MANE Select	NP_056161.2:n.5484+13G>A