Canonical Allele Identifier: CA10578190

Gene: MLH1

Linked Data

• ClinVar Variation Id: 229920
• ClinVar RCV Id: RCV000214598
• dbSNP Id: rs876658269
• gnomAD v4: 3-36993349-C-T
• MyVariant Identifiers: chr3:g.37034840C>T (hg19) ; chr3:g.36993349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993349C>T , CM000665.2:g.36993349C>T	GRCh38
NC_000003.11:g.37034840C>T , CM000665.1:g.37034840C>T	GRCh37
NC_000003.10:g.37009844C>T	NCBI36
NG_007109.2:g.5000C>T , LRG_216:g.5000C>T
NG_008418.1:g.4956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673673.2:c.-199C>T	ENSP00000500979.2:n.-199C>T
ENST00000231790.6:c.-199C>T	ENSP00000231790.2:n.-199C>T