Canonical Allele Identifier: CA7239339

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313884
• ClinVar RCV Id: RCV000872564 ; RCV000316966
• dbSNP Id: rs149860093
• ExAC: 14:68232937 C / T
• gnomAD v2: 14-68232937-C-T
• gnomAD v3: 14-67766220-C-T
• gnomAD v4: 14-67766220-C-T
• MyVariant Identifiers: chr14:g.68232937C>T (hg19) ; chr14:g.67766220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67766220C>T , CM000676.2:g.67766220C>T	GRCh38
NC_000014.8:g.68232937C>T , CM000676.1:g.68232937C>T	GRCh37
NC_000014.7:g.67302690C>T	NCBI36
NG_011836.1:g.55370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.6011+7G>A MANE Select	ENSP00000251119.5:n.6011+7G>A
ENST00000676512.1:c.6029+7G>A	ENSP00000504552.1:n.6029+7G>A
ENST00000676620.1:c.5933+7G>A	ENSP00000504587.1:n.5933+7G>A
ENST00000678386.1:c.6056+7G>A	ENSP00000503677.1:n.6056+7G>A
ENST00000347230.8:c.6011+7G>A	ENSP00000251119.5:n.6011+7G>A
ENST00000394455.6:n.1274+7G>A
ENST00000554523.5:n.6148+7G>A
ENST00000554557.5:c.*3989+7G>A	ENSP00000450431.1:n.*3989+7G>A
ENST00000555452.1:c.6011+7G>A	ENSP00000450603.1:n.6011+7G>A
NM_015346.3:c.6011+7G>A	NP_056161.2:n.6011+7G>A
XM_006720093.2:c.6011+7G>A	XP_006720156.1:n.6011+7G>A
XM_011536606.1:c.4502+7G>A	XP_011534908.1:n.4502+7G>A
XM_011536607.1:c.3686+7G>A	XP_011534909.1:n.3686+7G>A
XM_011536608.1:c.3593+7G>A	XP_011534910.1:n.3593+7G>A
XM_017021124.1:c.6029+7G>A	XP_016876613.1:n.6029+7G>A
XM_017021125.1:c.6029+7G>A	XP_016876614.1:n.6029+7G>A
XM_017021126.1:c.4520+7G>A	XP_016876615.1:n.4520+7G>A
XM_017021127.2:c.3704+7G>A	XP_016876616.1:n.3704+7G>A
XM_017021128.1:c.3611+7G>A	XP_016876617.1:n.3611+7G>A
NM_015346.4:c.6011+7G>A MANE Select	NP_056161.2:n.6011+7G>A