Canonical Allele Identifier: CA2768640631
Gene: HBEGF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333311G>T , CM000667.2:g.140333311G>T GRCh38
NC_000005.9:g.139712896G>T , CM000667.1:g.139712896G>T GRCh37
NC_000005.8:g.139693080G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*988C>A MANE Select ENSP00000230990.6:n.*988C>A
ENST00000230990.6:c.*988C>A ENSP00000230990.6:n.*988C>A
NM_001945.2:c.*988C>A NP_001936.1:n.*988C>A
NM_001945.3:c.*988C>A MANE Select NP_001936.1:n.*988C>A