Canonical Allele Identifier: CA2675573878
Gene: HBEGF HGNC NCBI

Linked Data

gnomAD v4: 5-140333328-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333328T>C , CM000667.2:g.140333328T>C GRCh38
NC_000005.9:g.139712913T>C , CM000667.1:g.139712913T>C GRCh37
NC_000005.8:g.139693097T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*971A>G MANE Select ENSP00000230990.6:n.*971A>G
ENST00000230990.6:c.*971A>G ENSP00000230990.6:n.*971A>G
NM_001945.2:c.*971A>G NP_001936.1:n.*971A>G
NM_001945.3:c.*971A>G MANE Select NP_001936.1:n.*971A>G
Search 100 bp 5'
Search 100 bp 3'