Canonical Allele Identifier: CA315586255
Gene: EPPIN-WFDC6 HGNC NCBI
EPPIN HGNC NCBI

Linked Data

dbSNP Id: rs993443077
gnomAD v3: 20-45547542-T-C
gnomAD v4: 20-45547542-T-C
MyVariant Identifiers: chr20:g.44176181T>C (hg19) chr20:g.45547542T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45547542T>C , CM000682.2:g.45547542T>C GRCh38
NC_000020.10:g.44176181T>C , CM000682.1:g.44176181T>C GRCh37
NC_000020.9:g.43609595T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651288.1:c.-185A>G (EPPIN-WFDC6) ENSP00000498632.1:n.-185A>G
ENST00000409554.1:c.-185A>G (EPPIN) ENSP00000387153.1:n.-185A>G
Search 100 bp 5'
Search 100 bp 3'