Canonical Allele Identifier: CA804690181

Gene: HBEGF

Linked Data

• dbSNP Id: rs1374532727
• MyVariant Identifiers: chr5:g.139712850A>T (hg19) ; chr5:g.140333265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333265A>T , CM000667.2:g.140333265A>T	GRCh38
NC_000005.9:g.139712850A>T , CM000667.1:g.139712850A>T	GRCh37
NC_000005.8:g.139693034A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1034T>A MANE Select	ENSP00000230990.6:n.*1034T>A
ENST00000230990.6:c.*1034T>A	ENSP00000230990.6:n.*1034T>A
NM_001945.2:c.*1034T>A	NP_001936.1:n.*1034T>A
NM_001945.3:c.*1034T>A MANE Select	NP_001936.1:n.*1034T>A