Canonical Allele Identifier: CA1586714204
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1318183489
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333077C>A , CM000667.2:g.140333077C>A GRCh38
NC_000005.9:g.139712662C>A , CM000667.1:g.139712662C>A GRCh37
NC_000005.8:g.139692846C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1222G>T MANE Select ENSP00000230990.6:n.*1222G>T
ENST00000230990.6:c.*1222G>T ENSP00000230990.6:n.*1222G>T
NM_001945.2:c.*1222G>T NP_001936.1:n.*1222G>T
NM_001945.3:c.*1222G>T MANE Select NP_001936.1:n.*1222G>T
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