Canonical Allele Identifier: CA47198453
Gene: EPCAM-DT HGNC NCBI

Linked Data

dbSNP Id: rs113441781
gnomAD v2: 2-47481483-T-C
gnomAD v3: 2-47254344-T-C
gnomAD v4: 2-47254344-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47254344T>C , CM000664.2:g.47254344T>C GRCh38
NC_000002.11:g.47481483T>C , CM000664.1:g.47481483T>C GRCh37
NC_000002.10:g.47334987T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_110207.1:n.175-33021A>G
NR_110208.1:n.404-54801A>G
XR_001739451.1:n.606-1459A>G