Canonical Allele Identifier: CA2675573985
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333461-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333461G>T , CM000667.2:g.140333461G>T GRCh38
NC_000005.9:g.139713046G>T , CM000667.1:g.139713046G>T GRCh37
NC_000005.8:g.139693230G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*838C>A MANE Select ENSP00000230990.6:n.*838C>A
ENST00000230990.6:c.*838C>A ENSP00000230990.6:n.*838C>A
NM_001945.2:c.*838C>A NP_001936.1:n.*838C>A
NM_001945.3:c.*838C>A MANE Select NP_001936.1:n.*838C>A
Search 100 bp 5'
Search 100 bp 3'