Canonical Allele Identifier: CA913187939

Gene: MSH6

Linked Data

• ClinVar Variation Id: 920116
• ClinVar RCV Id: RCV001178693
• dbSNP Id: rs766407370
• gnomAD v4: 2-47783222-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783222C>T , CM000664.2:g.47783222C>T	GRCh38
NC_000002.11:g.48010361C>T , CM000664.1:g.48010361C>T	GRCh37
NC_000002.10:g.47863865C>T	NCBI36
NG_007111.1:g.5076C>T , LRG_219:g.5076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.-12C>T	ENSP00000514752.2:n.-12C>T
ENST00000699999.1:n.73C>T
ENST00000700000.1:c.-12C>T	ENSP00000514749.1:n.-12C>T
ENST00000700001.1:n.61C>T
ENST00000700002.1:c.-12C>T	ENSP00000514750.1:n.-12C>T
ENST00000234420.11:c.-12C>T MANE Select	ENSP00000234420.5:n.-12C>T
ENST00000540021.6:c.-12C>T	ENSP00000446475.1:n.-12C>T
ENST00000652107.1:c.-37-7705C>T	ENSP00000498629.1:n.-37-7705C>T
ENST00000673637.1:c.-47C>T	ENSP00000501310.1:n.-47C>T
ENST00000673922.1:n.78C>T
ENST00000234420.9:c.-12C>T	ENSP00000234420.4:n.-12C>T
ENST00000445503.5:c.-12C>T	ENSP00000405294.1:n.-12C>T
ENST00000456246.1:c.-12C>T	ENSP00000410570.1:n.-12C>T
ENST00000493177.1:n.53C>T
ENST00000540021.5:c.-12C>T	ENSP00000446475.1:n.-12C>T
ENST00000606499.1:c.-37-7705C>T	ENSP00000475605.1:n.-37-7705C>T
ENST00000614496.4:c.-748C>T	ENSP00000477844.1:n.-748C>T
ENST00000616033.4:c.-12C>T	ENSP00000480261.1:n.-12C>T
ENST00000622629.4:c.-3108C>T	ENSP00000482078.1:n.-3108C>T
NM_000179.2:c.-12C>T , LRG_219t1:c.-12C>T	NP_000170.1:n.-12C>T
NM_001281492.1:c.-12C>T	NP_001268421.1:n.-12C>T
NM_001281493.1:c.-748C>T	NP_001268422.1:n.-748C>T
XM_011532800.1:c.-47C>T	XP_011531102.1:n.-47C>T
XM_024452819.1:c.-12C>T	XP_024308587.1:n.-12C>T
XM_024452822.1:c.-748C>T	XP_024308590.1:n.-748C>T
NM_000179.3:c.-12C>T MANE Select	NP_000170.1:n.-12C>T
NM_001281492.2:c.-12C>T	NP_001268421.1:n.-12C>T
NM_001281493.2:c.-748C>T	NP_001268422.1:n.-748C>T