Canonical Allele Identifier: CA390170528

Gene: ZFYVE26

Linked Data

• dbSNP Id: rs1174199275
• gnomAD v4: 14-67782929-A-G
• MyVariant Identifiers: chr14:g.68249646A>G (hg19) ; chr14:g.67782929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67782929A>G , CM000676.2:g.67782929A>G	GRCh38
NC_000014.8:g.68249646A>G , CM000676.1:g.68249646A>G	GRCh37
NC_000014.7:g.67319399A>G	NCBI36
NG_011836.1:g.38661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.4223T>C MANE Select	ENSP00000251119.5:p.Ile1408Thr
ENST00000676512.1:c.4223T>C	ENSP00000504552.1:p.Ile1408Thr
ENST00000676620.1:c.4223T>C	ENSP00000504587.1:p.Ile1408Thr
ENST00000678386.1:c.4223T>C	ENSP00000503677.1:p.Ile1408Thr
ENST00000347230.8:c.4223T>C	ENSP00000251119.5:p.Ile1408Thr
ENST00000554523.5:n.4360T>C
ENST00000554557.5:c.*2350+170T>C	ENSP00000450431.1:n.*2350+170T>C
ENST00000555452.1:c.4223T>C	ENSP00000450603.1:p.Ile1408Thr
NM_015346.3:c.4223T>C	NP_056161.2:p.Ile1408Thr
XM_006720093.2:c.4223T>C	XP_006720156.1:p.Ile1408Thr
XM_011536606.1:c.2714T>C	XP_011534908.1:p.Ile905Thr
XM_011536607.1:c.1898T>C	XP_011534909.1:p.Ile633Thr
XM_011536608.1:c.1805T>C	XP_011534910.1:p.Ile602Thr
XM_011536609.1:c.4223T>C	XP_011534911.1:p.Ile1408Thr
XM_011536609.2:c.4223T>C	XP_011534911.1:p.Ile1408Thr
XM_017021124.1:c.4223T>C	XP_016876613.1:p.Ile1408Thr
XM_017021125.1:c.4223T>C	XP_016876614.1:p.Ile1408Thr
XM_017021126.1:c.2714T>C	XP_016876615.1:p.Ile905Thr
XM_017021127.2:c.1898T>C	XP_016876616.1:p.Ile633Thr
XM_017021128.1:c.1805T>C	XP_016876617.1:p.Ile602Thr
NM_015346.4:c.4223T>C MANE Select	NP_056161.2:p.Ile1408Thr