Canonical Allele Identifier: CA7238907

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 313871
• ClinVar RCV Id: RCV000377251 ; RCV000877392 ; RCV001848114
• dbSNP Id: rs550301037
• ExAC: 14:68215156 C / T
• gnomAD v2: 14-68215156-C-T
• gnomAD v3: 14-67748439-C-T
• gnomAD v4: 14-67748439-C-T
• MyVariant Identifiers: chr14:g.68215156C>T (hg19) ; chr14:g.67748439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67748439C>T , CM000676.2:g.67748439C>T	GRCh38
NC_000014.8:g.68215156C>T , CM000676.1:g.68215156C>T	GRCh37
NC_000014.7:g.67284909C>T	NCBI36
NG_011836.1:g.73151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.7617G>A MANE Select	ENSP00000251119.5:p.Lys2539=
ENST00000676512.1:c.7635G>A	ENSP00000504552.1:p.Lys2545=
ENST00000676620.1:c.7539G>A	ENSP00000504587.1:p.Lys2513=
ENST00000678386.1:c.7662G>A	ENSP00000503677.1:p.Lys2554=
ENST00000347230.8:c.7617G>A	ENSP00000251119.5:p.Lys2539=
ENST00000394455.6:n.2679+2613G>A
ENST00000554523.5:n.8372G>A
ENST00000554557.5:c.*5595G>A	ENSP00000450431.1:n.*5595G>A
NM_015346.3:c.7617G>A	NP_056161.2:p.Lys2539=
XM_006720093.2:c.7416+2613G>A	XP_006720156.1:n.7416+2613G>A
XM_011536606.1:c.6108G>A	XP_011534908.1:p.Lys2036=
XM_011536607.1:c.5292G>A	XP_011534909.1:p.Lys1764=
XM_011536608.1:c.5199G>A	XP_011534910.1:p.Lys1733=
XM_017021124.1:c.7635G>A	XP_016876613.1:p.Lys2545=
XM_017021125.1:c.7434+2613G>A	XP_016876614.1:n.7434+2613G>A
XM_017021126.1:c.6126G>A	XP_016876615.1:p.Lys2042=
XM_017021127.2:c.5310G>A	XP_016876616.1:p.Lys1770=
XM_017021128.1:c.5217G>A	XP_016876617.1:p.Lys1739=
NM_015346.4:c.7617G>A MANE Select	NP_056161.2:p.Lys2539=