Canonical Allele Identifier: CA7239804

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313897
• ClinVar RCV Id: RCV000355669 ; RCV000419450 ; RCV000633053 ; RCV001848118
• dbSNP Id: rs373740172
• ExAC: 14:68249576 C / G
• gnomAD v2: 14-68249576-C-G
• gnomAD v3: 14-67782859-C-G
• gnomAD v4: 14-67782859-C-G
• MyVariant Identifiers: chr14:g.68249576C>G (hg19) ; chr14:g.67782859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782859C>G , CM000676.2:g.67782859C>G	GRCh38
NC_000014.8:g.68249576C>G , CM000676.1:g.68249576C>G	GRCh37
NC_000014.7:g.67319329C>G	NCBI36
NG_011836.1:g.38731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4293G>C MANE Select	ENSP00000251119.5:p.Gln1431His
ENST00000676512.1:c.4293G>C	ENSP00000504552.1:p.Gln1431His
ENST00000676620.1:c.4293G>C	ENSP00000504587.1:p.Gln1431His
ENST00000678386.1:c.4293G>C	ENSP00000503677.1:p.Gln1431His
ENST00000347230.8:c.4293G>C	ENSP00000251119.5:p.Gln1431His
ENST00000554523.5:n.4430G>C
ENST00000554557.5:c.*2350+240G>C	ENSP00000450431.1:n.*2350+240G>C
ENST00000555452.1:c.4293G>C	ENSP00000450603.1:p.Gln1431His
NM_015346.3:c.4293G>C	NP_056161.2:p.Gln1431His
XM_006720093.2:c.4293G>C	XP_006720156.1:p.Gln1431His
XM_011536606.1:c.2784G>C	XP_011534908.1:p.Gln928His
XM_011536607.1:c.1968G>C	XP_011534909.1:p.Gln656His
XM_011536608.1:c.1875G>C	XP_011534910.1:p.Gln625His
XM_011536609.1:c.4293G>C	XP_011534911.1:p.Gln1431His
XM_011536609.2:c.4293G>C	XP_011534911.1:p.Gln1431His
XM_017021124.1:c.4293G>C	XP_016876613.1:p.Gln1431His
XM_017021125.1:c.4293G>C	XP_016876614.1:p.Gln1431His
XM_017021126.1:c.2784G>C	XP_016876615.1:p.Gln928His
XM_017021127.2:c.1968G>C	XP_016876616.1:p.Gln656His
XM_017021128.1:c.1875G>C	XP_016876617.1:p.Gln625His
NM_015346.4:c.4293G>C MANE Select	NP_056161.2:p.Gln1431His