Canonical Allele Identifier: CA128810931
Gene: HBEGF HGNC NCBI

Linked Data

dbSNP Id: rs908912039
gnomAD v3: 5-140332916-C-T
gnomAD v4: 5-140332916-C-T
MyVariant Identifiers: chr5:g.139712501C>T (hg19) chr5:g.140332916C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140332916C>T , CM000667.2:g.140332916C>T GRCh38
NC_000005.9:g.139712501C>T , CM000667.1:g.139712501C>T GRCh37
NC_000005.8:g.139692685C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*1383G>A MANE Select ENSP00000230990.6:n.*1383G>A
ENST00000230990.6:c.*1383G>A ENSP00000230990.6:n.*1383G>A
NM_001945.2:c.*1383G>A NP_001936.1:n.*1383G>A
NM_001945.3:c.*1383G>A MANE Select NP_001936.1:n.*1383G>A
Search 100 bp 5'
Search 100 bp 3'