Canonical Allele Identifier: CA2675573805
Gene: HBEGF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333272C>T , CM000667.2:g.140333272C>T GRCh38
NC_000005.9:g.139712857C>T , CM000667.1:g.139712857C>T GRCh37
NC_000005.8:g.139693041C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1027G>A MANE Select ENSP00000230990.6:n.*1027G>A
ENST00000230990.6:c.*1027G>A ENSP00000230990.6:n.*1027G>A
NM_001945.2:c.*1027G>A NP_001936.1:n.*1027G>A
NM_001945.3:c.*1027G>A MANE Select NP_001936.1:n.*1027G>A