Canonical Allele Identifier: CA128810950
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs543403168
gnomAD v3: 5-140333057-G-C
gnomAD v4: 5-140333057-G-C
MyVariant Identifiers: chr5:g.139712642G>C (hg19) chr5:g.140333057G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333057G>C , CM000667.2:g.140333057G>C GRCh38
NC_000005.9:g.139712642G>C , CM000667.1:g.139712642G>C GRCh37
NC_000005.8:g.139692826G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1242C>G MANE Select ENSP00000230990.6:n.*1242C>G
ENST00000230990.6:c.*1242C>G ENSP00000230990.6:n.*1242C>G
NM_001945.2:c.*1242C>G NP_001936.1:n.*1242C>G
NM_001945.3:c.*1242C>G MANE Select NP_001936.1:n.*1242C>G
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