Canonical Allele Identifier: CA2580069309

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1790148
• ClinVar RCV Id: RCV002448533
• gnomAD v4: 3-36993313-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993313T>G , CM000665.2:g.36993313T>G	GRCh38
NC_000003.11:g.37034804T>G , CM000665.1:g.37034804T>G	GRCh37
NC_000003.10:g.37009808T>G	NCBI36
NG_007109.2:g.4964T>G , LRG_216:g.4964T>G
NG_008418.1:g.4992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-235T>G	ENSP00000500979.2:n.-235T>G