Canonical Allele Identifier: CA11945453
Gene: HBEGF HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.140333293G>A
GRCh37 chr5:g.139712878G>A
gnomAD v2:
5:139712878 G / A
gnomAD v3:
5:140333293 G / A
gnomAD v4:
chr5-140333293-G-A
Joint Max Group AF 0.29921534 (EAS)
Genomes Max Group AF 0.29711953 (EAS)
Exomes Max Group AF 0.29340364 (EAS)
dbSNP:
13385
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333293G>A , CM000667.2:g.140333293G>A GRCh38
NC_000005.9:g.139712878G>A , CM000667.1:g.139712878G>A GRCh37
NC_000005.8:g.139693062G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1006C>T MANE Select ENSP00000230990.6:n.*1006C>T
ENST00000230990.6:c.*1006C>T ENSP00000230990.6:n.*1006C>T
NM_001945.2:c.*1006C>T NP_001936.1:n.*1006C>T
NM_001945.3:c.*1006C>T MANE Select NP_001936.1:n.*1006C>T
Search 100 bp 5'
Search 100 bp 3'