Canonical Allele Identifier: CA348048

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 219623
• ClinVar RCV Id: RCV000203761 ; RCV000517780 ; RCV000763939 ; RCV001311360 ; RCV001847926 ; RCV002515515
• dbSNP Id: rs146968463
• ExAC: 14:68241793 C / T
• gnomAD v2: 14-68241793-C-T
• gnomAD v3: 14-67775076-C-T
• gnomAD v4: 14-67775076-C-T
• MyVariant Identifiers: chr14:g.68241793C>T (hg19) ; chr14:g.67775076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67775076C>T , CM000676.2:g.67775076C>T	GRCh38
NC_000014.8:g.68241793C>T , CM000676.1:g.68241793C>T	GRCh37
NC_000014.7:g.67311546C>T	NCBI36
NG_011836.1:g.46514G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347230.9:c.5260G>A MANE Select	ENSP00000251119.5:p.Ala1754Thr
ENST00000676512.1:c.5278G>A	ENSP00000504552.1:p.Ala1760Thr
ENST00000676620.1:c.5182G>A	ENSP00000504587.1:p.Ala1728Thr
ENST00000678386.1:c.5305G>A	ENSP00000503677.1:p.Ala1769Thr
ENST00000347230.8:c.5260G>A	ENSP00000251119.5:p.Ala1754Thr
ENST00000554523.5:n.5397G>A
ENST00000554557.5:c.*3238G>A	ENSP00000450431.1:n.*3238G>A
ENST00000555452.1:c.5260G>A	ENSP00000450603.1:p.Ala1754Thr
NM_015346.3:c.5260G>A	NP_056161.2:p.Ala1754Thr
XM_006720093.2:c.5260G>A	XP_006720156.1:p.Ala1754Thr
XM_011536606.1:c.3751G>A	XP_011534908.1:p.Ala1251Thr
XM_011536607.1:c.2935G>A	XP_011534909.1:p.Ala979Thr
XM_011536608.1:c.2842G>A	XP_011534910.1:p.Ala948Thr
XM_017021124.1:c.5278G>A	XP_016876613.1:p.Ala1760Thr
XM_017021125.1:c.5278G>A	XP_016876614.1:p.Ala1760Thr
XM_017021126.1:c.3769G>A	XP_016876615.1:p.Ala1257Thr
XM_017021127.2:c.2953G>A	XP_016876616.1:p.Ala985Thr
XM_017021128.1:c.2860G>A	XP_016876617.1:p.Ala954Thr
NM_015346.4:c.5260G>A MANE Select	NP_056161.2:p.Ala1754Thr