Canonical Allele Identifier: CA72786131
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820896
ClinVar RCV Id: RCV001014795
dbSNP Id: rs909378684
gnomAD v3: 3-36993328-A-G
gnomAD v4: 3-36993328-A-G
MyVariant Identifiers: chr3:g.37034819A>G (hg19) chr3:g.36993328A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993328A>G , CM000665.2:g.36993328A>G GRCh38
NC_000003.11:g.37034819A>G , CM000665.1:g.37034819A>G GRCh37
NC_000003.10:g.37009823A>G NCBI36
NG_007109.2:g.4979A>G , LRG_216:g.4979A>G
NG_008418.1:g.4977T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-220A>G ENSP00000500979.2:n.-220A>G
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