Canonical Allele Identifier: CA2768640632
Gene: HBEGF HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333326G>T , CM000667.2:g.140333326G>T GRCh38
NC_000005.9:g.139712911G>T , CM000667.1:g.139712911G>T GRCh37
NC_000005.8:g.139693095G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*973C>A MANE Select ENSP00000230990.6:n.*973C>A
ENST00000230990.6:c.*973C>A ENSP00000230990.6:n.*973C>A
NM_001945.2:c.*973C>A NP_001936.1:n.*973C>A
NM_001945.3:c.*973C>A MANE Select NP_001936.1:n.*973C>A
Search 100 bp 5'
Search 100 bp 3'