Canonical Allele Identifier: CA128810971

Gene: HBEGF

Linked Data

• dbSNP Id: rs369711855
• MyVariant Identifiers: chr5:g.139712835A>G (hg19) ; chr5:g.140333250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333250A>G , CM000667.2:g.140333250A>G	GRCh38
NC_000005.9:g.139712835A>G , CM000667.1:g.139712835A>G	GRCh37
NC_000005.8:g.139693019A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1049T>C MANE Select	ENSP00000230990.6:n.*1049T>C
ENST00000230990.6:c.*1049T>C	ENSP00000230990.6:n.*1049T>C
NM_001945.2:c.*1049T>C	NP_001936.1:n.*1049T>C
NM_001945.3:c.*1049T>C MANE Select	NP_001936.1:n.*1049T>C