Canonical Allele Identifier: CA128810978
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs530653154
gnomAD v3: 5-140333353-C-G
gnomAD v4: 5-140333353-C-G
MyVariant Identifiers: chr5:g.139712938C>G (hg19) chr5:g.140333353C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333353C>G , CM000667.2:g.140333353C>G GRCh38
NC_000005.9:g.139712938C>G , CM000667.1:g.139712938C>G GRCh37
NC_000005.8:g.139693122C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*946G>C MANE Select ENSP00000230990.6:n.*946G>C
ENST00000230990.6:c.*946G>C ENSP00000230990.6:n.*946G>C
NM_001945.2:c.*946G>C NP_001936.1:n.*946G>C
NM_001945.3:c.*946G>C MANE Select NP_001936.1:n.*946G>C
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