Canonical Allele Identifier: CA128810952
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs779521495

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333093C>G , CM000667.2:g.140333093C>G GRCh38
NC_000005.9:g.139712678C>G , CM000667.1:g.139712678C>G GRCh37
NC_000005.8:g.139692862C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1206G>C MANE Select ENSP00000230990.6:n.*1206G>C
ENST00000230990.6:c.*1206G>C ENSP00000230990.6:n.*1206G>C
NM_001945.2:c.*1206G>C NP_001936.1:n.*1206G>C
NM_001945.3:c.*1206G>C MANE Select NP_001936.1:n.*1206G>C