Canonical Allele Identifier: CA7239129

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313877
• ClinVar RCV Id: RCV000391713 ; RCV000468012 ; RCV000518776 ; RCV001731593 ; RCV001848116
• dbSNP Id: rs144007962
• ExAC: 14:68221935 C / T
• gnomAD v2: 14-68221935-C-T
• gnomAD v3: 14-67755218-C-T
• gnomAD v4: 14-67755218-C-T
• MyVariant Identifiers: chr14:g.68221935C>T (hg19) ; chr14:g.67755218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67755218C>T , CM000676.2:g.67755218C>T	GRCh38
NC_000014.8:g.68221935C>T , CM000676.1:g.68221935C>T	GRCh37
NC_000014.7:g.67291688C>T	NCBI36
NG_011836.1:g.66372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.6819G>A MANE Select	ENSP00000251119.5:p.Arg2273=
ENST00000676512.1:c.6837G>A	ENSP00000504552.1:p.Arg2279=
ENST00000676620.1:c.6741G>A	ENSP00000504587.1:p.Arg2247=
ENST00000678386.1:c.6864G>A	ENSP00000503677.1:p.Arg2288=
ENST00000347230.8:c.6819G>A	ENSP00000251119.5:p.Arg2273=
ENST00000394455.6:n.2082G>A
ENST00000554523.5:n.7574G>A
ENST00000554557.5:c.*4797G>A	ENSP00000450431.1:n.*4797G>A
ENST00000554783.1:n.507G>A
ENST00000557306.1:c.357G>A	ENSP00000452142.1:p.Arg119=
NM_015346.3:c.6819G>A	NP_056161.2:p.Arg2273=
XM_006720093.2:c.6819G>A	XP_006720156.1:p.Arg2273=
XM_011536606.1:c.5310G>A	XP_011534908.1:p.Arg1770=
XM_011536607.1:c.4494G>A	XP_011534909.1:p.Arg1498=
XM_011536608.1:c.4401G>A	XP_011534910.1:p.Arg1467=
XM_017021124.1:c.6837G>A	XP_016876613.1:p.Arg2279=
XM_017021125.1:c.6837G>A	XP_016876614.1:p.Arg2279=
XM_017021126.1:c.5328G>A	XP_016876615.1:p.Arg1776=
XM_017021127.2:c.4512G>A	XP_016876616.1:p.Arg1504=
XM_017021128.1:c.4419G>A	XP_016876617.1:p.Arg1473=
NM_015346.4:c.6819G>A MANE Select	NP_056161.2:p.Arg2273=