Canonical Allele Identifier: CA1030271516
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1671451152
gnomAD v3: 2-47377258-A-G
gnomAD v4: 2-47377258-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377258A>G , CM000664.2:g.47377258A>G GRCh38
NC_000002.11:g.47604397A>G , CM000664.1:g.47604397A>G GRCh37
NC_000002.10:g.47457901A>G NCBI36
NG_012352.2:g.37096A>G , LRG_215:g.37096A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+181A>G MANE Select ENSP00000263735.4:n.555+181A>G
ENST00000263735.8:c.555+181A>G ENSP00000263735.4:n.555+181A>G
ENST00000405271.5:c.639+181A>G ENSP00000385476.1:n.639+181A>G
ENST00000456133.5:c.639+181A>G ENSP00000410675.1:n.639+181A>G
ENST00000490733.1:n.404+181A>G
NM_002354.2:c.555+181A>G , LRG_215t1:c.555+181A>G NP_002345.2:n.555+181A>G
NM_002354.3:c.555+181A>G MANE Select NP_002345.2:n.555+181A>G