Canonical Allele Identifier: CA2675573726
Gene: HBEGF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333210T>C , CM000667.2:g.140333210T>C GRCh38
NC_000005.9:g.139712795T>C , CM000667.1:g.139712795T>C GRCh37
NC_000005.8:g.139692979T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1089A>G MANE Select ENSP00000230990.6:n.*1089A>G
ENST00000230990.6:c.*1089A>G ENSP00000230990.6:n.*1089A>G
NM_001945.2:c.*1089A>G NP_001936.1:n.*1089A>G
NM_001945.3:c.*1089A>G MANE Select NP_001936.1:n.*1089A>G