Canonical Allele Identifier: CA2675574001
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333508-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333508A>T , CM000667.2:g.140333508A>T GRCh38
NC_000005.9:g.139713093A>T , CM000667.1:g.139713093A>T GRCh37
NC_000005.8:g.139693277A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*791T>A MANE Select ENSP00000230990.6:n.*791T>A
ENST00000230990.6:c.*791T>A ENSP00000230990.6:n.*791T>A
NM_001945.2:c.*791T>A NP_001936.1:n.*791T>A
NM_001945.3:c.*791T>A MANE Select NP_001936.1:n.*791T>A
Search 100 bp 5'
Search 100 bp 3'