Canonical Allele Identifier: CA7240084

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 448889
• ClinVar RCV Id: RCV000516415 ; RCV000710228 ; RCV001085997 ; RCV001121757 ; RCV001848909
• dbSNP Id: rs138895639
• ExAC: 14:68252919 A / G
• gnomAD v2: 14-68252919-A-G
• gnomAD v3: 14-67786202-A-G
• gnomAD v4: 14-67786202-A-G
• MyVariant Identifiers: chr14:g.68252919A>G (hg19) ; chr14:g.67786202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67786202A>G , CM000676.2:g.67786202A>G	GRCh38
NC_000014.8:g.68252919A>G , CM000676.1:g.68252919A>G	GRCh37
NC_000014.7:g.67322672A>G	NCBI36
NG_011836.1:g.35388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.3051T>C MANE Select	ENSP00000251119.5:p.Ala1017=
ENST00000676512.1:c.3051T>C	ENSP00000504552.1:p.Ala1017=
ENST00000676620.1:c.3051T>C	ENSP00000504587.1:p.Ala1017=
ENST00000678386.1:c.3051T>C	ENSP00000503677.1:p.Ala1017=
ENST00000347230.8:c.3051T>C	ENSP00000251119.5:p.Ala1017=
ENST00000554523.5:n.3188T>C
ENST00000554557.5:c.*1348T>C	ENSP00000450431.1:n.*1348T>C
ENST00000555452.1:c.3051T>C	ENSP00000450603.1:p.Ala1017=
NM_015346.3:c.3051T>C	NP_056161.2:p.Ala1017=
XM_006720093.2:c.3051T>C	XP_006720156.1:p.Ala1017=
XM_011536606.1:c.1542T>C	XP_011534908.1:p.Ala514=
XM_011536607.1:c.726T>C	XP_011534909.1:p.Ala242=
XM_011536608.1:c.633T>C	XP_011534910.1:p.Ala211=
XM_011536609.1:c.3051T>C	XP_011534911.1:p.Ala1017=
XM_011536609.2:c.3051T>C	XP_011534911.1:p.Ala1017=
XM_017021124.1:c.3051T>C	XP_016876613.1:p.Ala1017=
XM_017021125.1:c.3051T>C	XP_016876614.1:p.Ala1017=
XM_017021126.1:c.1542T>C	XP_016876615.1:p.Ala514=
XM_017021127.2:c.726T>C	XP_016876616.1:p.Ala242=
XM_017021128.1:c.633T>C	XP_016876617.1:p.Ala211=
NM_015346.4:c.3051T>C MANE Select	NP_056161.2:p.Ala1017=