Canonical Allele Identifier: CA2675573928
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333373-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333373G>T , CM000667.2:g.140333373G>T GRCh38
NC_000005.9:g.139712958G>T , CM000667.1:g.139712958G>T GRCh37
NC_000005.8:g.139693142G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*926C>A MANE Select ENSP00000230990.6:n.*926C>A
ENST00000230990.6:c.*926C>A ENSP00000230990.6:n.*926C>A
NM_001945.2:c.*926C>A NP_001936.1:n.*926C>A
NM_001945.3:c.*926C>A MANE Select NP_001936.1:n.*926C>A
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