Canonical Allele Identifier: CA2675573982
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333451-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333451C>T , CM000667.2:g.140333451C>T GRCh38
NC_000005.9:g.139713036C>T , CM000667.1:g.139713036C>T GRCh37
NC_000005.8:g.139693220C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*848G>A MANE Select ENSP00000230990.6:n.*848G>A
ENST00000230990.6:c.*848G>A ENSP00000230990.6:n.*848G>A
NM_001945.2:c.*848G>A NP_001936.1:n.*848G>A
NM_001945.3:c.*848G>A MANE Select NP_001936.1:n.*848G>A
Search 100 bp 5'
Search 100 bp 3'