Canonical Allele Identifier: CA346734813
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 483760
dbSNP Id: rs1445690889
gnomAD v3: 2-47783321-G-C
gnomAD v4: 2-47783321-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783321G>C , CM000664.2:g.47783321G>C GRCh38
NC_000002.11:g.48010460G>C , CM000664.1:g.48010460G>C GRCh37
NC_000002.10:g.47863964G>C NCBI36
NG_007111.1:g.5175G>C , LRG_219:g.5175G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.88G>C ENSP00000514752.2:p.Glu30Gln
ENST00000699999.1:n.172G>C
ENST00000700000.1:c.88G>C ENSP00000514749.1:p.Glu30Gln
ENST00000700001.1:n.160G>C
ENST00000700002.1:c.88G>C ENSP00000514750.1:p.Glu30Gln
ENST00000700003.1:c.88G>C ENSP00000514751.1:p.Glu30Gln
ENST00000234420.11:c.88G>C MANE Select ENSP00000234420.5:p.Glu30Gln
ENST00000540021.6:c.88G>C ENSP00000446475.1:p.Glu30Gln
ENST00000652107.1:c.-37-7606G>C ENSP00000498629.1:n.-37-7606G>C
ENST00000673637.1:c.-38+90G>C ENSP00000501310.1:n.-38+90G>C
ENST00000673922.1:n.177G>C
ENST00000234420.9:c.88G>C ENSP00000234420.4:p.Glu30Gln
ENST00000445503.5:c.88G>C ENSP00000405294.1:p.Glu30Gln
ENST00000456246.1:c.88G>C ENSP00000410570.1:p.Glu30Gln
ENST00000493177.1:n.152G>C
ENST00000540021.5:c.88G>C ENSP00000446475.1:p.Glu30Gln
ENST00000606499.1:c.-37-7606G>C ENSP00000475605.1:n.-37-7606G>C
ENST00000614496.4:c.-649G>C ENSP00000477844.1:n.-649G>C
ENST00000616033.4:c.88G>C ENSP00000480261.1:p.Glu30Gln
ENST00000622629.4:c.-3009G>C ENSP00000482078.1:n.-3009G>C
NM_000179.2:c.88G>C , LRG_219t1:c.88G>C NP_000170.1:p.Glu30Gln
NM_001281492.1:c.88G>C NP_001268421.1:p.Glu30Gln
NM_001281493.1:c.-649G>C NP_001268422.1:n.-649G>C
XM_011532800.1:c.-38+90G>C XP_011531102.1:n.-38+90G>C
XM_024452819.1:c.88G>C XP_024308587.1:p.Glu30Gln
XM_024452822.1:c.-649G>C XP_024308590.1:n.-649G>C
NM_000179.3:c.88G>C MANE Select NP_000170.1:p.Glu30Gln
NM_001281492.2:c.88G>C NP_001268421.1:p.Glu30Gln
NM_001281493.2:c.-649G>C NP_001268422.1:n.-649G>C