Canonical Allele Identifier: CA128810965

Gene: HBEGF

Linked Data

• dbSNP Id: rs149641182
• gnomAD v2: 5-139712799-C-T
• gnomAD v3: 5-140333214-C-T
• gnomAD v4: 5-140333214-C-T
• MyVariant Identifiers: chr5:g.139712799C>T (hg19) ; chr5:g.140333214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140333214C>T , CM000667.2:g.140333214C>T	GRCh38
NC_000005.9:g.139712799C>T , CM000667.1:g.139712799C>T	GRCh37
NC_000005.8:g.139692983C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230990.7:c.*1085G>A MANE Select	ENSP00000230990.6:n.*1085G>A
ENST00000230990.6:c.*1085G>A	ENSP00000230990.6:n.*1085G>A
NM_001945.2:c.*1085G>A	NP_001936.1:n.*1085G>A
NM_001945.3:c.*1085G>A MANE Select	NP_001936.1:n.*1085G>A