Canonical Allele Identifier: CA315586217

Gene: EPPIN-WFDC6 EPPIN

Linked Data

• dbSNP Id: rs2227290
• gnomAD v2: 20-44176142-G-T
• gnomAD v3: 20-45547503-G-T
• gnomAD v4: 20-45547503-G-T
• MyVariant Identifiers: chr20:g.44176142G>T (hg19) ; chr20:g.45547503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45547503G>T , CM000682.2:g.45547503G>T	GRCh38
NC_000020.10:g.44176142G>T , CM000682.1:g.44176142G>T	GRCh37
NC_000020.9:g.43609556G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651288.1:c.-146C>A (EPPIN-WFDC6)	ENSP00000498632.1:n.-146C>A
ENST00000409554.1:c.-146C>A (EPPIN)	ENSP00000387153.1:n.-146C>A