Canonical Allele Identifier: CA542613736

Gene: MLH1

Linked Data

• ClinVar Variation Id: 820965
• ClinVar RCV Id: RCV001014930
• dbSNP Id: rs1430228880
• gnomAD v2: 3-37034815-G-T
• gnomAD v3: 3-36993324-G-T
• gnomAD v4: 3-36993324-G-T
• MyVariant Identifiers: chr3:g.37034815G>T (hg19) ; chr3:g.36993324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993324G>T , CM000665.2:g.36993324G>T	GRCh38
NC_000003.11:g.37034815G>T , CM000665.1:g.37034815G>T	GRCh37
NC_000003.10:g.37009819G>T	NCBI36
NG_007109.2:g.4975G>T , LRG_216:g.4975G>T
NG_008418.1:g.4981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-224G>T	ENSP00000500979.2:n.-224G>T