Canonical Allele Identifier: CA2675573549
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140332922-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332922A>G , CM000667.2:g.140332922A>G GRCh38
NC_000005.9:g.139712507A>G , CM000667.1:g.139712507A>G GRCh37
NC_000005.8:g.139692691A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1377T>C MANE Select ENSP00000230990.6:n.*1377T>C
ENST00000230990.6:c.*1377T>C ENSP00000230990.6:n.*1377T>C
NM_001945.2:c.*1377T>C NP_001936.1:n.*1377T>C
NM_001945.3:c.*1377T>C MANE Select NP_001936.1:n.*1377T>C
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