Canonical Allele Identifier: CA14758226

Gene: EPPIN EPPIN-WFDC6

Linked Data

• dbSNP Id: rs11594
• gnomAD v2: 20-44170712-C-A
• gnomAD v3: 20-45542073-C-A
• gnomAD v4: 20-45542073-C-A
• MyVariant Identifiers: chr20:g.44170712C>A (hg19) ; chr20:g.45542073C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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