Canonical Allele Identifier: CA7240705

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313921
• ClinVar RCV Id: RCV000292145 ; RCV000860644 ; RCV001081273 ; RCV001660641 ; RCV003910183
• dbSNP Id: rs150230201
• ExAC: 14:68274228 C / T
• gnomAD v2: 14-68274228-C-T
• gnomAD v3: 14-67807511-C-T
• gnomAD v4: 14-67807511-C-T
• MyVariant Identifiers: chr14:g.68274228C>T (hg19) ; chr14:g.67807511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67807511C>T , CM000676.2:g.67807511C>T	GRCh38
NC_000014.8:g.68274228C>T , CM000676.1:g.68274228C>T	GRCh37
NC_000014.7:g.67343981C>T	NCBI36
NG_011836.1:g.14079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.773G>A MANE Select	ENSP00000251119.5:p.Arg258Gln
ENST00000676512.1:c.773G>A	ENSP00000504552.1:p.Arg258Gln
ENST00000676620.1:c.773G>A	ENSP00000504587.1:p.Arg258Gln
ENST00000677026.1:c.773G>A	ENSP00000503710.1:p.Arg258Gln
ENST00000678382.1:c.773G>A	ENSP00000504130.1:p.Arg258Gln
ENST00000678386.1:c.773G>A	ENSP00000503677.1:p.Arg258Gln
ENST00000347230.8:c.773G>A	ENSP00000251119.5:p.Arg258Gln
ENST00000554523.5:n.910G>A
ENST00000554557.5:c.773G>A	ENSP00000450431.1:p.Arg258Gln
ENST00000555452.1:c.773G>A	ENSP00000450603.1:p.Arg258Gln
ENST00000557366.5:n.908G>A
ENST00000557407.1:n.908G>A
NM_015346.3:c.773G>A	NP_056161.2:p.Arg258Gln
XM_006720093.2:c.773G>A	XP_006720156.1:p.Arg258Gln
XM_011536606.1:c.-648G>A	XP_011534908.1:n.-648G>A
XM_011536609.1:c.773G>A	XP_011534911.1:p.Arg258Gln
XM_011536609.2:c.773G>A	XP_011534911.1:p.Arg258Gln
XM_017021124.1:c.773G>A	XP_016876613.1:p.Arg258Gln
XM_017021125.1:c.773G>A	XP_016876614.1:p.Arg258Gln
XM_017021126.1:c.-648G>A	XP_016876615.1:n.-648G>A
NM_015346.4:c.773G>A MANE Select	NP_056161.2:p.Arg258Gln