Canonical Allele Identifier: CA563487382
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1472078865
gnomAD v2: 5-139712966-C-T
gnomAD v3: 5-140333381-C-T
gnomAD v4: 5-140333381-C-T
MyVariant Identifiers: chr5:g.139712966C>T (hg19) chr5:g.140333381C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333381C>T , CM000667.2:g.140333381C>T GRCh38
NC_000005.9:g.139712966C>T , CM000667.1:g.139712966C>T GRCh37
NC_000005.8:g.139693150C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*918G>A MANE Select ENSP00000230990.6:n.*918G>A
ENST00000230990.6:c.*918G>A ENSP00000230990.6:n.*918G>A
NM_001945.2:c.*918G>A NP_001936.1:n.*918G>A
NM_001945.3:c.*918G>A MANE Select NP_001936.1:n.*918G>A
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