Canonical Allele Identifier: CA128810936
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1054840382
gnomAD v3: 5-140332952-C-T
gnomAD v4: 5-140332952-C-T
MyVariant Identifiers: chr5:g.139712537C>T (hg19) chr5:g.140332952C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332952C>T , CM000667.2:g.140332952C>T GRCh38
NC_000005.9:g.139712537C>T , CM000667.1:g.139712537C>T GRCh37
NC_000005.8:g.139692721C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1347G>A MANE Select ENSP00000230990.6:n.*1347G>A
ENST00000230990.6:c.*1347G>A ENSP00000230990.6:n.*1347G>A
NM_001945.2:c.*1347G>A NP_001936.1:n.*1347G>A
NM_001945.3:c.*1347G>A MANE Select NP_001936.1:n.*1347G>A
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