Canonical Allele Identifier: CA7239610

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 1082533
• ClinVar RCV Id: RCV001398885
• dbSNP Id: rs756162071
• ExAC: 14:68242818 C / T
• gnomAD v2: 14-68242818-C-T
• gnomAD v3: 14-67776101-C-T
• gnomAD v4: 14-67776101-C-T
• MyVariant Identifiers: chr14:g.68242818C>T (hg19) ; chr14:g.67776101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67776101C>T , CM000676.2:g.67776101C>T	GRCh38
NC_000014.8:g.68242818C>T , CM000676.1:g.68242818C>T	GRCh37
NC_000014.7:g.67312571C>T	NCBI36
NG_011836.1:g.45489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4980G>A MANE Select	ENSP00000251119.5:p.Leu1660=
ENST00000676512.1:c.4980G>A	ENSP00000504552.1:p.Leu1660=
ENST00000676620.1:c.4975-73G>A	ENSP00000504587.1:n.4975-73G>A
ENST00000678386.1:c.5025G>A	ENSP00000503677.1:p.Leu1675=
ENST00000347230.8:c.4980G>A	ENSP00000251119.5:p.Leu1660=
ENST00000554523.5:n.5117G>A
ENST00000554557.5:c.*2958G>A	ENSP00000450431.1:n.*2958G>A
ENST00000555452.1:c.4980G>A	ENSP00000450603.1:p.Leu1660=
NM_015346.3:c.4980G>A	NP_056161.2:p.Leu1660=
XM_006720093.2:c.4980G>A	XP_006720156.1:p.Leu1660=
XM_011536606.1:c.3471G>A	XP_011534908.1:p.Leu1157=
XM_011536607.1:c.2655G>A	XP_011534909.1:p.Leu885=
XM_011536608.1:c.2562G>A	XP_011534910.1:p.Leu854=
XM_011536609.1:c.4997G>A	XP_011534911.1:p.Cys1666Tyr
XM_011536609.2:c.4997G>A	XP_011534911.1:p.Cys1666Tyr
XM_017021124.1:c.4980G>A	XP_016876613.1:p.Leu1660=
XM_017021125.1:c.4980G>A	XP_016876614.1:p.Leu1660=
XM_017021126.1:c.3471G>A	XP_016876615.1:p.Leu1157=
XM_017021127.2:c.2655G>A	XP_016876616.1:p.Leu885=
XM_017021128.1:c.2562G>A	XP_016876617.1:p.Leu854=
NM_015346.4:c.4980G>A MANE Select	NP_056161.2:p.Leu1660=