Canonical Allele Identifier: CA315586237
Gene: EPPIN-WFDC6 HGNC NCBI
EPPIN HGNC NCBI

Linked Data

dbSNP Id: rs748858428
gnomAD v2: 20-44176158-G-C
gnomAD v3: 20-45547519-G-C
gnomAD v4: 20-45547519-G-C
MyVariant Identifiers: chr20:g.44176158G>C (hg19) chr20:g.45547519G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45547519G>C , CM000682.2:g.45547519G>C GRCh38
NC_000020.10:g.44176158G>C , CM000682.1:g.44176158G>C GRCh37
NC_000020.9:g.43609572G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651288.1:c.-162C>G (EPPIN-WFDC6) ENSP00000498632.1:n.-162C>G
ENST00000409554.1:c.-162C>G (EPPIN) ENSP00000387153.1:n.-162C>G
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