Canonical Allele Identifier: CA2605462

Gene: IFT122 MBD4

Linked Data

• ClinVar Variation Id: 1236752
• ClinVar RCV Id: RCV001639267
• dbSNP Id: rs10342
• ExAC: 3:129155670 C / T
• gnomAD v2: 3-129155670-C-T
• gnomAD v3: 3-129436827-C-T
• gnomAD v4: 3-129436827-C-T
• MyVariant Identifiers: chr3:g.129155670C>T (hg19) ; chr3:g.129436827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129436827C>T , CM000665.2:g.129436827C>T	GRCh38
NC_000003.11:g.129155670C>T , CM000665.1:g.129155670C>T	GRCh37
NC_000003.10:g.130638360C>T	NCBI36
NG_023392.1:g.1703C>T
NG_033106.1:g.8353G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687461.1:n.288+3595C>T (IFT122)
ENST00000693654.1:n.355+3595C>T (IFT122)
ENST00000429544.7:c.817G>A (MBD4) MANE Select	ENSP00000394080.2:p.Ala273Thr
ENST00000249910.5:c.817G>A (MBD4)	ENSP00000249910.1:p.Ala273Thr
ENST00000393278.6:c.247+981G>A (MBD4)	ENSP00000376959.2:n.247+981G>A
ENST00000429544.6:c.817G>A (MBD4)	ENSP00000394080.2:p.Ala273Thr
ENST00000503197.5:c.817G>A (MBD4)	ENSP00000424873.1:p.Ala273Thr
ENST00000507208.1:c.817G>A (MBD4)	ENSP00000422327.1:p.Ala273Thr
ENST00000509587.1:n.442+893G>A (MBD4)
ENST00000509828.1:c.104+2903G>A (MBD4)	ENSP00000422690.1:n.104+2903G>A
NM_001276270.1:c.817G>A (MBD4)	NP_001263199.1:p.Ala273Thr
NM_001276271.1:c.817G>A (MBD4)	NP_001263200.1:p.Ala273Thr
NM_001276272.1:c.817G>A (MBD4)	NP_001263201.1:p.Ala273Thr
NM_001276273.1:c.247+981G>A (MBD4)	NP_001263202.1:n.247+981G>A
NM_003925.2:c.817G>A (MBD4)	NP_003916.1:p.Ala273Thr
XM_011513267.1:c.817G>A (MBD4)	XP_011511569.1:p.Ala273Thr
XM_011513268.1:c.16+893G>A (MBD4)	XP_011511570.1:n.16+893G>A
XM_024453810.1:c.817G>A (MBD4)	XP_024309578.1:p.Ala273Thr
NM_001276270.2:c.817G>A (MBD4) MANE Select	NP_001263199.1:p.Ala273Thr
NM_001276272.2:c.817G>A (MBD4)	NP_001263201.1:p.Ala273Thr
NM_003925.3:c.817G>A (MBD4)	NP_003916.1:p.Ala273Thr
NM_001276271.2:c.817G>A (MBD4)	NP_001263200.1:p.Ala273Thr
NM_001276273.2:c.247+981G>A (MBD4)	NP_001263202.1:n.247+981G>A