Canonical Allele Identifier: CA335934

Gene: ZFYVE26

Linked Data

• ClinVar Variation Id: 215520
• ClinVar RCV Id: RCV000195780 ; RCV000280192 ; RCV000614268 ; RCV001083657 ; RCV001847894
• dbSNP Id: rs201771769
• ExAC: 14:68215361 C / G
• gnomAD v2: 14-68215361-C-G
• gnomAD v3: 14-67748644-C-G
• gnomAD v4: 14-67748644-C-G
• MyVariant Identifiers: chr14:g.68215361C>G (hg19) ; chr14:g.67748644C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67748644C>G , CM000676.2:g.67748644C>G	GRCh38
NC_000014.8:g.68215361C>G , CM000676.1:g.68215361C>G	GRCh37
NC_000014.7:g.67285114C>G	NCBI36
NG_011836.1:g.72946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347230.9:c.7417-5G>C MANE Select	ENSP00000251119.5:n.7417-5G>C
ENST00000676512.1:c.7435-5G>C	ENSP00000504552.1:n.7435-5G>C
ENST00000676620.1:c.7339-5G>C	ENSP00000504587.1:n.7339-5G>C
ENST00000678386.1:c.7462-5G>C	ENSP00000503677.1:n.7462-5G>C
ENST00000347230.8:c.7417-5G>C	ENSP00000251119.5:n.7417-5G>C
ENST00000394455.6:n.2679+2408G>C
ENST00000554523.5:n.8172-5G>C
ENST00000554557.5:c.*5395-5G>C	ENSP00000450431.1:n.*5395-5G>C
NM_015346.3:c.7417-5G>C	NP_056161.2:n.7417-5G>C
XM_006720093.2:c.7416+2408G>C	XP_006720156.1:n.7416+2408G>C
XM_011536606.1:c.5908-5G>C	XP_011534908.1:n.5908-5G>C
XM_011536607.1:c.5092-5G>C	XP_011534909.1:n.5092-5G>C
XM_011536608.1:c.4999-5G>C	XP_011534910.1:n.4999-5G>C
XM_017021124.1:c.7435-5G>C	XP_016876613.1:n.7435-5G>C
XM_017021125.1:c.7434+2408G>C	XP_016876614.1:n.7434+2408G>C
XM_017021126.1:c.5926-5G>C	XP_016876615.1:n.5926-5G>C
XM_017021127.2:c.5110-5G>C	XP_016876616.1:n.5110-5G>C
XM_017021128.1:c.5017-5G>C	XP_016876617.1:n.5017-5G>C
NM_015346.4:c.7417-5G>C MANE Select	NP_056161.2:n.7417-5G>C