Canonical Allele Identifier: CA2675573590
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333007-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333007T>C , CM000667.2:g.140333007T>C GRCh38
NC_000005.9:g.139712592T>C , CM000667.1:g.139712592T>C GRCh37
NC_000005.8:g.139692776T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1292A>G MANE Select ENSP00000230990.6:n.*1292A>G
ENST00000230990.6:c.*1292A>G ENSP00000230990.6:n.*1292A>G
NM_001945.2:c.*1292A>G NP_001936.1:n.*1292A>G
NM_001945.3:c.*1292A>G MANE Select NP_001936.1:n.*1292A>G
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