Canonical Allele Identifier: CA128810979
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs576280050
gnomAD v3: 5-140333357-C-T
gnomAD v4: 5-140333357-C-T
MyVariant Identifiers: chr5:g.139712942C>T (hg19) chr5:g.140333357C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333357C>T , CM000667.2:g.140333357C>T GRCh38
NC_000005.9:g.139712942C>T , CM000667.1:g.139712942C>T GRCh37
NC_000005.8:g.139693126C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*942G>A MANE Select ENSP00000230990.6:n.*942G>A
ENST00000230990.6:c.*942G>A ENSP00000230990.6:n.*942G>A
NM_001945.2:c.*942G>A NP_001936.1:n.*942G>A
NM_001945.3:c.*942G>A MANE Select NP_001936.1:n.*942G>A
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