Canonical Allele Identifier: CA169081
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142669
ClinVar RCV Id: RCV000132019 RCV002055847
dbSNP Id: rs587782631
gnomAD v2: 3-37034809-G-C
gnomAD v3: 3-36993318-G-C
gnomAD v4: 3-36993318-G-C
MyVariant Identifiers: chr3:g.37034809G>C (hg19) chr3:g.36993318G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993318G>C , CM000665.2:g.36993318G>C GRCh38
NC_000003.11:g.37034809G>C , CM000665.1:g.37034809G>C GRCh37
NC_000003.10:g.37009813G>C NCBI36
NG_007109.2:g.4969G>C , LRG_216:g.4969G>C
NG_008418.1:g.4987C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-230G>C ENSP00000500979.2:n.-230G>C
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