Canonical Allele Identifier: CA10640683
Gene: ZFYVE26 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.67747853G>A
GRCh37 chr14:g.68214570G>A
gnomAD v2:
14:68214570 G / A
gnomAD v3:
14:67747853 G / A
gnomAD v4:
chr14-67747853-G-A
Joint Max Group AF 0.01046011 (NFE)
Genomes Max Group AF 0.01051508 (NFE)
Exomes Max Group AF 0.00693513 (NFE)
ClinVar RCV:
RCV000391305
RCV002262985
ClinVar Variation:
313863
dbSNP:
72723172
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67747853G>A , CM000676.2:g.67747853G>A GRCh38
NC_000014.8:g.68214570G>A , CM000676.1:g.68214570G>A GRCh37
NC_000014.7:g.67284323G>A NCBI36
NG_011836.1:g.73737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347230.9:c.*583C>T MANE Select ENSP00000251119.5:n.*583C>T
ENST00000676512.1:c.*583C>T ENSP00000504552.1:n.*583C>T
ENST00000676620.1:c.*583C>T ENSP00000504587.1:n.*583C>T
ENST00000678386.1:c.*583C>T ENSP00000503677.1:n.*583C>T
ENST00000347230.8:c.*583C>T ENSP00000251119.5:n.*583C>T
ENST00000394455.6:n.2679+3199C>T
NM_015346.3:c.*583C>T NP_056161.2:n.*583C>T
XM_006720093.2:c.7416+3199C>T XP_006720156.1:n.7416+3199C>T
XM_011536606.1:c.*583C>T XP_011534908.1:n.*583C>T
XM_011536607.1:c.*583C>T XP_011534909.1:n.*583C>T
XM_011536608.1:c.*583C>T XP_011534910.1:n.*583C>T
XM_017021124.1:c.*583C>T XP_016876613.1:n.*583C>T
XM_017021125.1:c.7434+3199C>T XP_016876614.1:n.7434+3199C>T
XM_017021126.1:c.*583C>T XP_016876615.1:n.*583C>T
XM_017021127.2:c.*583C>T XP_016876616.1:n.*583C>T
XM_017021128.1:c.*583C>T XP_016876617.1:n.*583C>T
NM_015346.4:c.*583C>T MANE Select NP_056161.2:n.*583C>T
Search 100 bp 5'
Search 100 bp 3'