Canonical Allele Identifier: CA804690034
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1284861921

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332985T>A , CM000667.2:g.140332985T>A GRCh38
NC_000005.9:g.139712570T>A , CM000667.1:g.139712570T>A GRCh37
NC_000005.8:g.139692754T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1314A>T MANE Select ENSP00000230990.6:n.*1314A>T
ENST00000230990.6:c.*1314A>T ENSP00000230990.6:n.*1314A>T
NM_001945.2:c.*1314A>T NP_001936.1:n.*1314A>T
NM_001945.3:c.*1314A>T MANE Select NP_001936.1:n.*1314A>T