Canonical Allele Identifier: CA2675573861
Gene: HBEGF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333313G>A , CM000667.2:g.140333313G>A GRCh38
NC_000005.9:g.139712898G>A , CM000667.1:g.139712898G>A GRCh37
NC_000005.8:g.139693082G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*986C>T MANE Select ENSP00000230990.6:n.*986C>T
ENST00000230990.6:c.*986C>T ENSP00000230990.6:n.*986C>T
NM_001945.2:c.*986C>T NP_001936.1:n.*986C>T
NM_001945.3:c.*986C>T MANE Select NP_001936.1:n.*986C>T