Canonical Allele Identifier: CA409177759

Gene: EPPIN EPPIN-WFDC6

Linked Data

• dbSNP Id: rs1979880669
• gnomAD v4: 20-45547342-G-T
• MyVariant Identifiers: chr20:g.44175981G>T (hg19) ; chr20:g.45547342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45547342G>T , CM000682.2:g.45547342G>T	GRCh38
NC_000020.10:g.44175981G>T , CM000682.1:g.44175981G>T	GRCh37
NC_000020.9:g.43609395G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354280.9:c.16C>A (EPPIN) MANE Select	ENSP00000361746.4:p.Leu6Ile
ENST00000651288.1:c.16C>A (EPPIN-WFDC6)	ENSP00000498632.1:p.Leu6Ile
ENST00000354280.8:c.16C>A (EPPIN)	ENSP00000361746.3:p.Leu6Ile
ENST00000409554.1:c.16C>A (EPPIN)	ENSP00000387153.1:p.Leu6Ile
ENST00000496898.1:n.16C>A (EPPIN)
ENST00000504988.1:c.16C>A (EPPIN-WFDC6)	ENSP00000424176.1:p.Leu6Ile
NM_001198986.1:c.16C>A (EPPIN-WFDC6)	NP_001185915.1:p.Leu6Ile
NM_001302861.1:c.16C>A (EPPIN)	NP_001289790.1:p.Leu6Ile
NM_020398.3:c.16C>A (EPPIN)	NP_065131.1:p.Leu6Ile
NM_001198986.2:c.16C>A (EPPIN-WFDC6)	NP_001185915.1:p.Leu6Ile
NM_001302861.2:c.16C>A (EPPIN)	NP_001289790.1:p.Leu6Ile
NM_020398.4:c.16C>A (EPPIN) MANE Select	NP_065131.1:p.Leu6Ile