Canonical Allele Identifier: CA7240229

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 488743
• ClinVar RCV Id: RCV000578746 ; RCV000665774 ; RCV001853838
• dbSNP Id: rs760559263
• ExAC: 14:68257491 C / G
• gnomAD v2: 14-68257491-C-G
• gnomAD v4: 14-67790774-C-G
• MyVariant Identifiers: chr14:g.68257491C>G (hg19) ; chr14:g.67790774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67790774C>G , CM000676.2:g.67790774C>G	GRCh38
NC_000014.8:g.68257491C>G , CM000676.1:g.68257491C>G	GRCh37
NC_000014.7:g.67327244C>G	NCBI36
NG_011836.1:g.30816G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.2554-1G>C MANE Select	ENSP00000251119.5:n.2554-1G>C
ENST00000676512.1:c.2554-1G>C	ENSP00000504552.1:n.2554-1G>C
ENST00000676620.1:c.2554-1G>C	ENSP00000504587.1:n.2554-1G>C
ENST00000677026.1:c.2350-1G>C	ENSP00000503710.1:n.2350-1G>C
ENST00000678382.1:c.*1549-1G>C	ENSP00000504130.1:n.*1549-1G>C
ENST00000678386.1:c.2554-1G>C	ENSP00000503677.1:n.2554-1G>C
ENST00000347230.8:c.2554-1G>C	ENSP00000251119.5:n.2554-1G>C
ENST00000554523.5:n.2691-1G>C
ENST00000554557.5:c.*851-1G>C	ENSP00000450431.1:n.*851-1G>C
ENST00000555452.1:c.2554-1G>C	ENSP00000450603.1:n.2554-1G>C
NM_015346.3:c.2554-1G>C	NP_056161.2:n.2554-1G>C
XM_006720093.2:c.2554-1G>C	XP_006720156.1:n.2554-1G>C
XM_011536606.1:c.1045-1G>C	XP_011534908.1:n.1045-1G>C
XM_011536607.1:c.229-1G>C	XP_011534909.1:n.229-1G>C
XM_011536608.1:c.136-1G>C	XP_011534910.1:n.136-1G>C
XM_011536609.1:c.2554-1G>C	XP_011534911.1:n.2554-1G>C
XM_011536609.2:c.2554-1G>C	XP_011534911.1:n.2554-1G>C
XM_017021124.1:c.2554-1G>C	XP_016876613.1:n.2554-1G>C
XM_017021125.1:c.2554-1G>C	XP_016876614.1:n.2554-1G>C
XM_017021126.1:c.1045-1G>C	XP_016876615.1:n.1045-1G>C
XM_017021127.2:c.229-1G>C	XP_016876616.1:n.229-1G>C
XM_017021128.1:c.136-1G>C	XP_016876617.1:n.136-1G>C
NM_015346.4:c.2554-1G>C MANE Select	NP_056161.2:n.2554-1G>C