Canonical Allele Identifier: CA1649048
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs780740347
gnomAD v2: 2-47604251-G-C
gnomAD v4: 2-47377112-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377112G>C , CM000664.2:g.47377112G>C GRCh38
NC_000002.11:g.47604251G>C , CM000664.1:g.47604251G>C GRCh37
NC_000002.10:g.47457755G>C NCBI36
NG_012352.2:g.36950G>C , LRG_215:g.36950G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+35G>C MANE Select ENSP00000263735.4:n.555+35G>C
ENST00000263735.8:c.555+35G>C ENSP00000263735.4:n.555+35G>C
ENST00000405271.5:c.639+35G>C ENSP00000385476.1:n.639+35G>C
ENST00000456133.5:c.639+35G>C ENSP00000410675.1:n.639+35G>C
ENST00000490733.1:n.404+35G>C
NM_002354.2:c.555+35G>C , LRG_215t1:c.555+35G>C NP_002345.2:n.555+35G>C
NM_002354.3:c.555+35G>C MANE Select NP_002345.2:n.555+35G>C