Canonical Allele Identifier: CA1586714239
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1766177870

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333131G>A , CM000667.2:g.140333131G>A GRCh38
NC_000005.9:g.139712716G>A , CM000667.1:g.139712716G>A GRCh37
NC_000005.8:g.139692900G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1168C>T MANE Select ENSP00000230990.6:n.*1168C>T
ENST00000230990.6:c.*1168C>T ENSP00000230990.6:n.*1168C>T
NM_001945.2:c.*1168C>T NP_001936.1:n.*1168C>T
NM_001945.3:c.*1168C>T MANE Select NP_001936.1:n.*1168C>T