Canonical Allele Identifier: CA804690212

Gene: HBEGF

Linked Data

• dbSNP Id: rs1485190273
• gnomAD v4: 5-140333316-A-G
• MyVariant Identifiers: chr5:g.139712901A>G (hg19) ; chr5:g.140333316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333316A>G , CM000667.2:g.140333316A>G	GRCh38
NC_000005.9:g.139712901A>G , CM000667.1:g.139712901A>G	GRCh37
NC_000005.8:g.139693085A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*983T>C MANE Select	ENSP00000230990.6:n.*983T>C
ENST00000230990.6:c.*983T>C	ENSP00000230990.6:n.*983T>C
NM_001945.2:c.*983T>C	NP_001936.1:n.*983T>C
NM_001945.3:c.*983T>C MANE Select	NP_001936.1:n.*983T>C