Canonical Allele Identifier: CA72786141

Gene: MLH1

Linked Data

• ClinVar Variation Id: 820824
• ClinVar RCV Id: RCV001014650
• dbSNP Id: rs942160251
• gnomAD v3: 3-36993331-A-T
• gnomAD v4: 3-36993331-A-T
• MyVariant Identifiers: chr3:g.37034822A>T (hg19) ; chr3:g.36993331A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993331A>T , CM000665.2:g.36993331A>T	GRCh38
NC_000003.11:g.37034822A>T , CM000665.1:g.37034822A>T	GRCh37
NC_000003.10:g.37009826A>T	NCBI36
NG_007109.2:g.4982A>T , LRG_216:g.4982A>T
NG_008418.1:g.4974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-217A>T	ENSP00000500979.2:n.-217A>T