Canonical Allele Identifier: CA194687
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186388
ClinVar RCV Id: RCV000165975
dbSNP Id: rs786202911
gnomAD v4: 3-36993343-G-T
MyVariant Identifiers: chr3:g.37034834G>T (hg19) chr3:g.36993343G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993343G>T , CM000665.2:g.36993343G>T GRCh38
NC_000003.11:g.37034834G>T , CM000665.1:g.37034834G>T GRCh37
NC_000003.10:g.37009838G>T NCBI36
NG_007109.2:g.4994G>T , LRG_216:g.4994G>T
NG_008418.1:g.4962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-205G>T ENSP00000500979.2:n.-205G>T
ENST00000231790.6:c.-205G>T ENSP00000231790.2:n.-205G>T
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