Canonical Allele Identifier: CA906755366

Gene: MLH1

Linked Data

• ClinVar Variation Id: 821120
• ClinVar RCV Id: RCV001015228
• dbSNP Id: rs1350241720
• gnomAD v3: 3-36993315-C-T
• gnomAD v4: 3-36993315-C-T
• MyVariant Identifiers: chr3:g.37034806C>T (hg19) ; chr3:g.36993315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993315C>T , CM000665.2:g.36993315C>T	GRCh38
NC_000003.11:g.37034806C>T , CM000665.1:g.37034806C>T	GRCh37
NC_000003.10:g.37009810C>T	NCBI36
NG_007109.2:g.4966C>T , LRG_216:g.4966C>T
NG_008418.1:g.4990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-233C>T	ENSP00000500979.2:n.-233C>T