Canonical Allele Identifier: CA128810957
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs919109448
gnomAD v4: 5-140333173-G-A
MyVariant Identifiers: chr5:g.139712758G>A (hg19) chr5:g.140333173G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333173G>A , CM000667.2:g.140333173G>A GRCh38
NC_000005.9:g.139712758G>A , CM000667.1:g.139712758G>A GRCh37
NC_000005.8:g.139692942G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1126C>T MANE Select ENSP00000230990.6:n.*1126C>T
ENST00000230990.6:c.*1126C>T ENSP00000230990.6:n.*1126C>T
NM_001945.2:c.*1126C>T NP_001936.1:n.*1126C>T
NM_001945.3:c.*1126C>T MANE Select NP_001936.1:n.*1126C>T
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