Canonical Allele Identifier: CA358160

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 224987
• ClinVar RCV Id: RCV000210660 ; RCV000670105 ; RCV003765356
• dbSNP Id: rs869312914
• MyVariant Identifiers: chr14:g.68219237G>A (hg19) ; chr14:g.67752520G>A (hg38)
• PubMed: PMID:24267886 ; PMID:25497598

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67752520G>A , CM000676.2:g.67752520G>A	GRCh38
NC_000014.8:g.68219237G>A , CM000676.1:g.68219237G>A	GRCh37
NC_000014.7:g.67288990G>A	NCBI36
NG_011836.1:g.69070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.7195C>T MANE Select	ENSP00000251119.5:p.Gln2399Ter
ENST00000676512.1:c.7213C>T	ENSP00000504552.1:p.Gln2405Ter
ENST00000676620.1:c.7117C>T	ENSP00000504587.1:p.Gln2373Ter
ENST00000678386.1:c.7240C>T	ENSP00000503677.1:p.Gln2414Ter
ENST00000347230.8:c.7195C>T	ENSP00000251119.5:p.Gln2399Ter
ENST00000394455.6:n.2458C>T
ENST00000554523.5:n.7950C>T
ENST00000554557.5:c.*5173C>T	ENSP00000450431.1:n.*5173C>T
ENST00000557306.1:c.733C>T	ENSP00000452142.1:p.Gln245Ter
NM_015346.3:c.7195C>T	NP_056161.2:p.Gln2399Ter
XM_006720093.2:c.7195C>T	XP_006720156.1:p.Gln2399Ter
XM_011536606.1:c.5686C>T	XP_011534908.1:p.Gln1896Ter
XM_011536607.1:c.4870C>T	XP_011534909.1:p.Gln1624Ter
XM_011536608.1:c.4777C>T	XP_011534910.1:p.Gln1593Ter
XM_017021124.1:c.7213C>T	XP_016876613.1:p.Gln2405Ter
XM_017021125.1:c.7213C>T	XP_016876614.1:p.Gln2405Ter
XM_017021126.1:c.5704C>T	XP_016876615.1:p.Gln1902Ter
XM_017021127.2:c.4888C>T	XP_016876616.1:p.Gln1630Ter
XM_017021128.1:c.4795C>T	XP_016876617.1:p.Gln1599Ter
NM_015346.4:c.7195C>T MANE Select	NP_056161.2:p.Gln2399Ter