Canonical Allele Identifier: CA390170256

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 1920440
• ClinVar RCV Id: RCV002630552
• MyVariant Identifiers: chr14:g.68249581G>A (hg19) ; chr14:g.67782864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782864G>A , CM000676.2:g.67782864G>A	GRCh38
NC_000014.8:g.68249581G>A , CM000676.1:g.68249581G>A	GRCh37
NC_000014.7:g.67319334G>A	NCBI36
NG_011836.1:g.38726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4288C>T MANE Select	ENSP00000251119.5:p.Leu1430Phe
ENST00000676512.1:c.4288C>T	ENSP00000504552.1:p.Leu1430Phe
ENST00000676620.1:c.4288C>T	ENSP00000504587.1:p.Leu1430Phe
ENST00000678386.1:c.4288C>T	ENSP00000503677.1:p.Leu1430Phe
ENST00000347230.8:c.4288C>T	ENSP00000251119.5:p.Leu1430Phe
ENST00000554523.5:n.4425C>T
ENST00000554557.5:c.*2350+235C>T	ENSP00000450431.1:n.*2350+235C>T
ENST00000555452.1:c.4288C>T	ENSP00000450603.1:p.Leu1430Phe
NM_015346.3:c.4288C>T	NP_056161.2:p.Leu1430Phe
XM_006720093.2:c.4288C>T	XP_006720156.1:p.Leu1430Phe
XM_011536606.1:c.2779C>T	XP_011534908.1:p.Leu927Phe
XM_011536607.1:c.1963C>T	XP_011534909.1:p.Leu655Phe
XM_011536608.1:c.1870C>T	XP_011534910.1:p.Leu624Phe
XM_011536609.1:c.4288C>T	XP_011534911.1:p.Leu1430Phe
XM_011536609.2:c.4288C>T	XP_011534911.1:p.Leu1430Phe
XM_017021124.1:c.4288C>T	XP_016876613.1:p.Leu1430Phe
XM_017021125.1:c.4288C>T	XP_016876614.1:p.Leu1430Phe
XM_017021126.1:c.2779C>T	XP_016876615.1:p.Leu927Phe
XM_017021127.2:c.1963C>T	XP_016876616.1:p.Leu655Phe
XM_017021128.1:c.1870C>T	XP_016876617.1:p.Leu624Phe
NM_015346.4:c.4288C>T MANE Select	NP_056161.2:p.Leu1430Phe