Canonical Allele Identifier: CA915942394

Gene: MLH1

Linked Data

• ClinVar Variation Id: 820895
• ClinVar RCV Id: RCV001014794
• dbSNP Id: rs909378684
• gnomAD v3: 3-36993328-A-C
• gnomAD v4: 3-36993328-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993328A>C , CM000665.2:g.36993328A>C	GRCh38
NC_000003.11:g.37034819A>C , CM000665.1:g.37034819A>C	GRCh37
NC_000003.10:g.37009823A>C	NCBI36
NG_007109.2:g.4979A>C , LRG_216:g.4979A>C
NG_008418.1:g.4977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-220A>C	ENSP00000500979.2:n.-220A>C