Canonical Allele Identifier: CA128810953
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs1004029658

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333101T>A , CM000667.2:g.140333101T>A GRCh38
NC_000005.9:g.139712686T>A , CM000667.1:g.139712686T>A GRCh37
NC_000005.8:g.139692870T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1198A>T MANE Select ENSP00000230990.6:n.*1198A>T
ENST00000230990.6:c.*1198A>T ENSP00000230990.6:n.*1198A>T
NM_001945.2:c.*1198A>T NP_001936.1:n.*1198A>T
NM_001945.3:c.*1198A>T MANE Select NP_001936.1:n.*1198A>T