Canonical Allele Identifier: CA1030271525
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1671451691
gnomAD v3: 2-47377278-C-G
gnomAD v4: 2-47377278-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377278C>G , CM000664.2:g.47377278C>G GRCh38
NC_000002.11:g.47604417C>G , CM000664.1:g.47604417C>G GRCh37
NC_000002.10:g.47457921C>G NCBI36
NG_012352.2:g.37116C>G , LRG_215:g.37116C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+201C>G MANE Select ENSP00000263735.4:n.555+201C>G
ENST00000263735.8:c.555+201C>G ENSP00000263735.4:n.555+201C>G
ENST00000405271.5:c.639+201C>G ENSP00000385476.1:n.639+201C>G
ENST00000456133.5:c.639+201C>G ENSP00000410675.1:n.639+201C>G
ENST00000490733.1:n.404+201C>G
NM_002354.2:c.555+201C>G , LRG_215t1:c.555+201C>G NP_002345.2:n.555+201C>G
NM_002354.3:c.555+201C>G MANE Select NP_002345.2:n.555+201C>G
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