Canonical Allele Identifier: CA334610

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 188323
• ClinVar RCV Id: RCV000435814 ; RCV000439576 ; RCV001115192 ; RCV001082969 ; RCV001847795
• dbSNP Id: rs116890187
• ExAC: 14:68256184 C / G
• gnomAD v2: 14-68256184-C-G
• gnomAD v3: 14-67789467-C-G
• gnomAD v4: 14-67789467-C-G
• MyVariant Identifiers: chr14:g.68256184C>G (hg19) ; chr14:g.67789467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67789467C>G , CM000676.2:g.67789467C>G	GRCh38
NC_000014.8:g.68256184C>G , CM000676.1:g.68256184C>G	GRCh37
NC_000014.7:g.67325937C>G	NCBI36
NG_011836.1:g.32123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.2887G>C MANE Select	ENSP00000251119.5:p.Val963Leu
ENST00000676512.1:c.2887G>C	ENSP00000504552.1:p.Val963Leu
ENST00000676620.1:c.2887G>C	ENSP00000504587.1:p.Val963Leu
ENST00000678386.1:c.2887G>C	ENSP00000503677.1:p.Val963Leu
ENST00000347230.8:c.2887G>C	ENSP00000251119.5:p.Val963Leu
ENST00000554523.5:n.3024G>C
ENST00000554557.5:c.*1184G>C	ENSP00000450431.1:n.*1184G>C
ENST00000555452.1:c.2887G>C	ENSP00000450603.1:p.Val963Leu
NM_015346.3:c.2887G>C	NP_056161.2:p.Val963Leu
XM_006720093.2:c.2887G>C	XP_006720156.1:p.Val963Leu
XM_011536606.1:c.1378G>C	XP_011534908.1:p.Val460Leu
XM_011536607.1:c.562G>C	XP_011534909.1:p.Val188Leu
XM_011536608.1:c.469G>C	XP_011534910.1:p.Val157Leu
XM_011536609.1:c.2887G>C	XP_011534911.1:p.Val963Leu
XM_011536609.2:c.2887G>C	XP_011534911.1:p.Val963Leu
XM_017021124.1:c.2887G>C	XP_016876613.1:p.Val963Leu
XM_017021125.1:c.2887G>C	XP_016876614.1:p.Val963Leu
XM_017021126.1:c.1378G>C	XP_016876615.1:p.Val460Leu
XM_017021127.2:c.562G>C	XP_016876616.1:p.Val188Leu
XM_017021128.1:c.469G>C	XP_016876617.1:p.Val157Leu
NM_015346.4:c.2887G>C MANE Select	NP_056161.2:p.Val963Leu