Canonical Allele Identifier: CA2675573858
Gene: HBEGF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333310G>T , CM000667.2:g.140333310G>T GRCh38
NC_000005.9:g.139712895G>T , CM000667.1:g.139712895G>T GRCh37
NC_000005.8:g.139693079G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*989C>A MANE Select ENSP00000230990.6:n.*989C>A
ENST00000230990.6:c.*989C>A ENSP00000230990.6:n.*989C>A
NM_001945.2:c.*989C>A NP_001936.1:n.*989C>A
NM_001945.3:c.*989C>A MANE Select NP_001936.1:n.*989C>A