Canonical Allele Identifier: CA128810945
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1032996537
gnomAD v4: 5-140333026-C-T
MyVariant Identifiers: chr5:g.140333026C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333026C>T , CM000667.2:g.140333026C>T GRCh38
NC_000005.9:g.139712611C>T , CM000667.1:g.139712611C>T GRCh37
NC_000005.8:g.139692795C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1273G>A MANE Select ENSP00000230990.6:n.*1273G>A
ENST00000230990.6:c.*1273G>A ENSP00000230990.6:n.*1273G>A
NM_001945.2:c.*1273G>A NP_001936.1:n.*1273G>A
NM_001945.3:c.*1273G>A MANE Select NP_001936.1:n.*1273G>A
Search 100 bp 5'
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