Canonical Allele Identifier: CA128810991
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1016100774
gnomAD v2: 5-139713069-G-C
gnomAD v3: 5-140333484-G-C
gnomAD v4: 5-140333484-G-C
MyVariant Identifiers: chr5:g.139713069G>C (hg19) chr5:g.140333484G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333484G>C , CM000667.2:g.140333484G>C GRCh38
NC_000005.9:g.139713069G>C , CM000667.1:g.139713069G>C GRCh37
NC_000005.8:g.139693253G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*815C>G MANE Select ENSP00000230990.6:n.*815C>G
ENST00000230990.6:c.*815C>G ENSP00000230990.6:n.*815C>G
NM_001945.2:c.*815C>G NP_001936.1:n.*815C>G
NM_001945.3:c.*815C>G MANE Select NP_001936.1:n.*815C>G
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