Canonical Allele Identifier: CA7240783

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313927
• ClinVar RCV Id: RCV000308862 ; RCV000518599 ; RCV000865318 ; RCV003910184 ; RCV004021611
• dbSNP Id: rs144919978
• ExAC: 14:68274558 C / G
• gnomAD v2: 14-68274558-C-G
• gnomAD v3: 14-67807841-C-G
• gnomAD v4: 14-67807841-C-G
• MyVariant Identifiers: chr14:g.68274558C>G (hg19) ; chr14:g.67807841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67807841C>G , CM000676.2:g.67807841C>G	GRCh38
NC_000014.8:g.68274558C>G , CM000676.1:g.68274558C>G	GRCh37
NC_000014.7:g.67344311C>G	NCBI36
NG_011836.1:g.13749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.443G>C MANE Select	ENSP00000251119.5:p.Arg148Pro
ENST00000676512.1:c.443G>C	ENSP00000504552.1:p.Arg148Pro
ENST00000676620.1:c.443G>C	ENSP00000504587.1:p.Arg148Pro
ENST00000677026.1:c.443G>C	ENSP00000503710.1:p.Arg148Pro
ENST00000678382.1:c.443G>C	ENSP00000504130.1:p.Arg148Pro
ENST00000678386.1:c.443G>C	ENSP00000503677.1:p.Arg148Pro
ENST00000347230.8:c.443G>C	ENSP00000251119.5:p.Arg148Pro
ENST00000554523.5:n.580G>C
ENST00000554557.5:c.443G>C	ENSP00000450431.1:p.Arg148Pro
ENST00000555452.1:c.443G>C	ENSP00000450603.1:p.Arg148Pro
ENST00000557366.5:n.578G>C
ENST00000557407.1:n.578G>C
NM_015346.3:c.443G>C	NP_056161.2:p.Arg148Pro
XM_006720093.2:c.443G>C	XP_006720156.1:p.Arg148Pro
XM_011536606.1:c.-978G>C	XP_011534908.1:n.-978G>C
XM_011536609.1:c.443G>C	XP_011534911.1:p.Arg148Pro
XM_011536609.2:c.443G>C	XP_011534911.1:p.Arg148Pro
XM_017021124.1:c.443G>C	XP_016876613.1:p.Arg148Pro
XM_017021125.1:c.443G>C	XP_016876614.1:p.Arg148Pro
XM_017021126.1:c.-978G>C	XP_016876615.1:n.-978G>C
NM_015346.4:c.443G>C MANE Select	NP_056161.2:p.Arg148Pro