Canonical Allele Identifier: CA804690058

Gene: HBEGF

Linked Data

• dbSNP Id: rs1318183489
• MyVariant Identifiers: chr5:g.139712662C>G (hg19) ; chr5:g.140333077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333077C>G , CM000667.2:g.140333077C>G	GRCh38
NC_000005.9:g.139712662C>G , CM000667.1:g.139712662C>G	GRCh37
NC_000005.8:g.139692846C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1222G>C MANE Select	ENSP00000230990.6:n.*1222G>C
ENST00000230990.6:c.*1222G>C	ENSP00000230990.6:n.*1222G>C
NM_001945.2:c.*1222G>C	NP_001936.1:n.*1222G>C
NM_001945.3:c.*1222G>C MANE Select	NP_001936.1:n.*1222G>C