Canonical Allele Identifier: CA128810933
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs554804173
gnomAD v2: 5-139712512-T-G
gnomAD v3: 5-140332927-T-G
gnomAD v4: 5-140332927-T-G
MyVariant Identifiers: chr5:g.139712512T>G (hg19) chr5:g.140332927T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332927T>G , CM000667.2:g.140332927T>G GRCh38
NC_000005.9:g.139712512T>G , CM000667.1:g.139712512T>G GRCh37
NC_000005.8:g.139692696T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1372A>C MANE Select ENSP00000230990.6:n.*1372A>C
ENST00000230990.6:c.*1372A>C ENSP00000230990.6:n.*1372A>C
NM_001945.2:c.*1372A>C NP_001936.1:n.*1372A>C
NM_001945.3:c.*1372A>C MANE Select NP_001936.1:n.*1372A>C
Search 100 bp 5'
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