Canonical Allele Identifier: CA128810962

Gene: HBEGF

Linked Data

• dbSNP Id: rs536541183
• gnomAD v3: 5-140333204-A-G
• gnomAD v4: 5-140333204-A-G
• MyVariant Identifiers: chr5:g.139712789A>G (hg19) ; chr5:g.140333204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333204A>G , CM000667.2:g.140333204A>G	GRCh38
NC_000005.9:g.139712789A>G , CM000667.1:g.139712789A>G	GRCh37
NC_000005.8:g.139692973A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1095T>C MANE Select	ENSP00000230990.6:n.*1095T>C
ENST00000230990.6:c.*1095T>C	ENSP00000230990.6:n.*1095T>C
NM_001945.2:c.*1095T>C	NP_001936.1:n.*1095T>C
NM_001945.3:c.*1095T>C MANE Select	NP_001936.1:n.*1095T>C