Canonical Allele Identifier: CA2605502

Linked Data

ClinVar Variation Id: 2353473
dbSNP Id: rs764948774

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129437057G>A , CM000665.2:g.129437057G>A GRCh38
NC_000003.11:g.129155900G>A , CM000665.1:g.129155900G>A GRCh37
NC_000003.10:g.130638590G>A NCBI36
NG_023392.1:g.1933G>A
NG_033106.1:g.8123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000687461.1:n.288+3825G>A (IFT122)
ENST00000693654.1:n.355+3825G>A (IFT122)
ENST00000429544.7:c.587C>T (MBD4) MANE Select ENSP00000394080.2:p.Ser196Leu
ENST00000249910.5:c.587C>T (MBD4) ENSP00000249910.1:p.Ser196Leu
ENST00000393278.6:c.247+751C>T (MBD4) ENSP00000376959.2:n.247+751C>T
ENST00000429544.6:c.587C>T (MBD4) ENSP00000394080.2:p.Ser196Leu
ENST00000503197.5:c.587C>T (MBD4) ENSP00000424873.1:p.Ser196Leu
ENST00000505883.1:n.603C>T (MBD4)
ENST00000507208.1:c.587C>T (MBD4) ENSP00000422327.1:p.Ser196Leu
ENST00000509587.1:n.442+663C>T (MBD4)
ENST00000509828.1:c.104+2673C>T (MBD4) ENSP00000422690.1:n.104+2673C>T
NM_001276270.1:c.587C>T (MBD4) NP_001263199.1:p.Ser196Leu
NM_001276271.1:c.587C>T (MBD4) NP_001263200.1:p.Ser196Leu
NM_001276272.1:c.587C>T (MBD4) NP_001263201.1:p.Ser196Leu
NM_001276273.1:c.247+751C>T (MBD4) NP_001263202.1:n.247+751C>T
NM_003925.2:c.587C>T (MBD4) NP_003916.1:p.Ser196Leu
XM_011513267.1:c.587C>T (MBD4) XP_011511569.1:p.Ser196Leu
XM_011513268.1:c.16+663C>T (MBD4) XP_011511570.1:n.16+663C>T
XM_024453810.1:c.587C>T (MBD4) XP_024309578.1:p.Ser196Leu
NM_001276270.2:c.587C>T (MBD4) MANE Select NP_001263199.1:p.Ser196Leu
NM_001276272.2:c.587C>T (MBD4) NP_001263201.1:p.Ser196Leu
NM_003925.3:c.587C>T (MBD4) NP_003916.1:p.Ser196Leu
NM_001276271.2:c.587C>T (MBD4) NP_001263200.1:p.Ser196Leu
NM_001276273.2:c.247+751C>T (MBD4) NP_001263202.1:n.247+751C>T