Canonical Allele Identifier: CA166080

Gene: MLH1

Linked Data

• ClinVar Variation Id: 141665
• ClinVar RCV Id: RCV000130272
• dbSNP Id: rs587781922
• MyVariant Identifiers: chr3:g.37034818C>G (hg19) ; chr3:g.36993327C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993327C>G , CM000665.2:g.36993327C>G	GRCh38
NC_000003.11:g.37034818C>G , CM000665.1:g.37034818C>G	GRCh37
NC_000003.10:g.37009822C>G	NCBI36
NG_007109.2:g.4978C>G , LRG_216:g.4978C>G
NG_008418.1:g.4978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-221C>G	ENSP00000500979.2:n.-221C>G