Canonical Allele Identifier: CA2366261663
Gene: EPPIN HGNC NCBI
EPPIN-WFDC6 HGNC NCBI

Linked Data

dbSNP Id: rs11594
gnomAD v4: 20-45542073-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45542073C>T , CM000682.2:g.45542073C>T GRCh38
NC_000020.10:g.44170712C>T , CM000682.1:g.44170712C>T GRCh37
NC_000020.9:g.43604126C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354280.9:c.*71G>A (EPPIN) MANE Select ENSP00000361746.4:n.*71G>A
ENST00000651288.1:c.391+627G>A (EPPIN-WFDC6) ENSP00000498632.1:n.391+627G>A
ENST00000336443.3:c.*71G>A (EPPIN) ENSP00000338114.3:n.*71G>A
ENST00000354280.8:c.*71G>A (EPPIN) ENSP00000361746.3:n.*71G>A
ENST00000409554.1:c.*129G>A (EPPIN) ENSP00000387153.1:n.*129G>A
ENST00000496898.1:n.3789G>A (EPPIN)
ENST00000504988.1:c.391+627G>A (EPPIN-WFDC6) ENSP00000424176.1:n.391+627G>A
NM_001198986.1:c.391+627G>A (EPPIN-WFDC6) NP_001185915.1:n.391+627G>A
NM_001302861.1:c.*100G>A (EPPIN) NP_001289790.1:n.*100G>A
NM_020398.3:c.*71G>A (EPPIN) NP_065131.1:n.*71G>A
NM_001198986.2:c.391+627G>A (EPPIN-WFDC6) NP_001185915.1:n.391+627G>A
NM_001302861.2:c.*100G>A (EPPIN) NP_001289790.1:n.*100G>A
NM_020398.4:c.*71G>A (EPPIN) MANE Select NP_065131.1:n.*71G>A
Search 100 bp 5'
Search 100 bp 3'