Canonical Allele Identifier: CA2675573631
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333058-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333058A>G , CM000667.2:g.140333058A>G GRCh38
NC_000005.9:g.139712643A>G , CM000667.1:g.139712643A>G GRCh37
NC_000005.8:g.139692827A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1241T>C MANE Select ENSP00000230990.6:n.*1241T>C
ENST00000230990.6:c.*1241T>C ENSP00000230990.6:n.*1241T>C
NM_001945.2:c.*1241T>C NP_001936.1:n.*1241T>C
NM_001945.3:c.*1241T>C MANE Select NP_001936.1:n.*1241T>C
Search 100 bp 5'
Search 100 bp 3'