Canonical Allele Identifier: CA114476

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 749
• ClinVar RCV Id: RCV000000785 ; RCV001035676 ; RCV001555238
• dbSNP Id: rs118204049
• ExAC: 14:68249557 G / A
• gnomAD v2: 14-68249557-G-A
• gnomAD v3: 14-67782840-G-A
• gnomAD v4: 14-67782840-G-A
• MyVariant Identifiers: chr14:g.68249557G>A (hg19) ; chr14:g.67782840G>A (hg38)
• PubMed: PMID:11342696 ; PMID:17661097 ; PMID:18394578

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782840G>A , CM000676.2:g.67782840G>A	GRCh38
NC_000014.8:g.68249557G>A , CM000676.1:g.68249557G>A	GRCh37
NC_000014.7:g.67319310G>A	NCBI36
NG_011836.1:g.38750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4312C>T MANE Select	ENSP00000251119.5:p.Arg1438Ter
ENST00000676512.1:c.4312C>T	ENSP00000504552.1:p.Arg1438Ter
ENST00000676620.1:c.4312C>T	ENSP00000504587.1:p.Arg1438Ter
ENST00000678386.1:c.4312C>T	ENSP00000503677.1:p.Arg1438Ter
ENST00000347230.8:c.4312C>T	ENSP00000251119.5:p.Arg1438Ter
ENST00000554523.5:n.4449C>T
ENST00000554557.5:c.*2350+259C>T	ENSP00000450431.1:n.*2350+259C>T
ENST00000555452.1:c.4312C>T	ENSP00000450603.1:p.Arg1438Ter
NM_015346.3:c.4312C>T	NP_056161.2:p.Arg1438Ter
XM_006720093.2:c.4312C>T	XP_006720156.1:p.Arg1438Ter
XM_011536606.1:c.2803C>T	XP_011534908.1:p.Arg935Ter
XM_011536607.1:c.1987C>T	XP_011534909.1:p.Arg663Ter
XM_011536608.1:c.1894C>T	XP_011534910.1:p.Arg632Ter
XM_011536609.1:c.4312C>T	XP_011534911.1:p.Arg1438Ter
XM_011536609.2:c.4312C>T	XP_011534911.1:p.Arg1438Ter
XM_017021124.1:c.4312C>T	XP_016876613.1:p.Arg1438Ter
XM_017021125.1:c.4312C>T	XP_016876614.1:p.Arg1438Ter
XM_017021126.1:c.2803C>T	XP_016876615.1:p.Arg935Ter
XM_017021127.2:c.1987C>T	XP_016876616.1:p.Arg663Ter
XM_017021128.1:c.1894C>T	XP_016876617.1:p.Arg632Ter
NM_015346.4:c.4312C>T MANE Select	NP_056161.2:p.Arg1438Ter