Canonical Allele Identifier: CA636016546
Gene: EPPIN-WFDC6 HGNC NCBI
EPPIN HGNC NCBI

Linked Data

dbSNP Id: rs1302427740
gnomAD v2: 20-44176149-C-G
gnomAD v3: 20-45547510-C-G
gnomAD v4: 20-45547510-C-G
MyVariant Identifiers: chr20:g.44176149C>G (hg19) chr20:g.45547510C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45547510C>G , CM000682.2:g.45547510C>G GRCh38
NC_000020.10:g.44176149C>G , CM000682.1:g.44176149C>G GRCh37
NC_000020.9:g.43609563C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651288.1:c.-153G>C (EPPIN-WFDC6) ENSP00000498632.1:n.-153G>C
ENST00000409554.1:c.-153G>C (EPPIN) ENSP00000387153.1:n.-153G>C
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