Canonical Allele Identifier: CA334145

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 188139
• ClinVar RCV Id: RCV000168014 ; RCV000437692 ; RCV001082302 ; RCV001118126 ; RCV001847789
• dbSNP Id: rs34952009
• ExAC: 14:68234533 C / A
• gnomAD v2: 14-68234533-C-A
• gnomAD v3: 14-67767816-C-A
• gnomAD v4: 14-67767816-C-A
• MyVariant Identifiers: chr14:g.68234533C>A (hg19) ; chr14:g.67767816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67767816C>A , CM000676.2:g.67767816C>A	GRCh38
NC_000014.8:g.68234533C>A , CM000676.1:g.68234533C>A	GRCh37
NC_000014.7:g.67304286C>A	NCBI36
NG_011836.1:g.53774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.5678G>T MANE Select	ENSP00000251119.5:p.Ser1893Ile
ENST00000676512.1:c.5696G>T	ENSP00000504552.1:p.Ser1899Ile
ENST00000676620.1:c.5600G>T	ENSP00000504587.1:p.Ser1867Ile
ENST00000678386.1:c.5723G>T	ENSP00000503677.1:p.Ser1908Ile
ENST00000347230.8:c.5678G>T	ENSP00000251119.5:p.Ser1893Ile
ENST00000394455.6:n.941G>T
ENST00000554523.5:n.5815G>T
ENST00000554557.5:c.*3656G>T	ENSP00000450431.1:n.*3656G>T
ENST00000555452.1:c.5678G>T	ENSP00000450603.1:p.Ser1893Ile
NM_015346.3:c.5678G>T	NP_056161.2:p.Ser1893Ile
XM_006720093.2:c.5678G>T	XP_006720156.1:p.Ser1893Ile
XM_011536606.1:c.4169G>T	XP_011534908.1:p.Ser1390Ile
XM_011536607.1:c.3353G>T	XP_011534909.1:p.Ser1118Ile
XM_011536608.1:c.3260G>T	XP_011534910.1:p.Ser1087Ile
XM_017021124.1:c.5696G>T	XP_016876613.1:p.Ser1899Ile
XM_017021125.1:c.5696G>T	XP_016876614.1:p.Ser1899Ile
XM_017021126.1:c.4187G>T	XP_016876615.1:p.Ser1396Ile
XM_017021127.2:c.3371G>T	XP_016876616.1:p.Ser1124Ile
XM_017021128.1:c.3278G>T	XP_016876617.1:p.Ser1093Ile
NM_015346.4:c.5678G>T MANE Select	NP_056161.2:p.Ser1893Ile