Canonical Allele Identifier: CA1046889207
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785861
ClinVar RCV Id: RCV002424173
dbSNP Id: rs2080865743
gnomAD v3: 3-36993339-C-T
gnomAD v4: 3-36993339-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993339C>T , CM000665.2:g.36993339C>T GRCh38
NC_000003.11:g.37034830C>T , CM000665.1:g.37034830C>T GRCh37
NC_000003.10:g.37009834C>T NCBI36
NG_007109.2:g.4990C>T , LRG_216:g.4990C>T
NG_008418.1:g.4966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-209C>T ENSP00000500979.2:n.-209C>T
ENST00000231790.6:c.-209C>T ENSP00000231790.2:n.-209C>T
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