Canonical Allele Identifier: CA10614833

Gene: IFT122 MBD4

Linked Data

• ClinVar Variation Id: 343225
• ClinVar RCV Id: RCV000380131 ; RCV001557240
• dbSNP Id: rs148987764
• gnomAD v2: 3-129158964-C-A
• gnomAD v3: 3-129440121-C-A
• gnomAD v4: 3-129440121-C-A
• MyVariant Identifiers: chr3:g.129158964C>A (hg19) ; chr3:g.129440121C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129440121C>A , CM000665.2:g.129440121C>A	GRCh38
NC_000003.11:g.129158964C>A , CM000665.1:g.129158964C>A	GRCh37
NC_000003.10:g.130641654C>A	NCBI36
NG_023392.1:g.4997C>A
NG_033106.1:g.5059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440957.7:c.-210C>A (IFT122)	ENSP00000401569.3:n.-210C>A
ENST00000687461.1:n.288+6889C>A (IFT122)
ENST00000688129.1:c.-210C>A (IFT122)	ENSP00000509382.1:n.-210C>A
ENST00000689313.1:c.-210C>A (IFT122)	ENSP00000509012.1:n.-210C>A
ENST00000689801.1:c.-210C>A (IFT122)	ENSP00000509982.1:n.-210C>A
ENST00000693654.1:n.355+6889C>A (IFT122)
ENST00000393278.6:c.-288G>T (MBD4)	ENSP00000376959.2:n.-288G>T
ENST00000431818.6:c.-811C>A (IFT122)	ENSP00000410946.2:n.-811C>A
ENST00000440957.6:c.-581C>A (IFT122)	ENSP00000401569.2:n.-581C>A
NM_001276270.1:c.-288G>T (MBD4)	NP_001263199.1:n.-288G>T
NM_001276271.1:c.-288G>T (MBD4)	NP_001263200.1:n.-288G>T
NM_001276272.1:c.-288G>T (MBD4)	NP_001263201.1:n.-288G>T
NM_001276273.1:c.-288G>T (MBD4)	NP_001263202.1:n.-288G>T
NM_001280541.1:c.-210C>A (IFT122)	NP_001267470.1:n.-210C>A
NM_001280545.1:c.-811C>A (IFT122)	NP_001267474.1:n.-811C>A
NM_001280546.1:c.-581C>A (IFT122)	NP_001267475.1:n.-581C>A
NM_003925.2:c.-288G>T (MBD4)	NP_003916.1:n.-288G>T
NM_018262.3:c.-210C>A (IFT122)	NP_060732.2:n.-210C>A
NM_052985.3:c.-210C>A (IFT122)	NP_443711.2:n.-210C>A
NM_052989.2:c.-210C>A (IFT122)	NP_443715.1:n.-210C>A
NM_052990.2:c.-210C>A (IFT122)	NP_443716.1:n.-210C>A
XM_005247609.1:c.-210C>A (IFT122)	XP_005247666.1:n.-210C>A
XM_006713689.1:c.-210C>A (IFT122)	XP_006713752.1:n.-210C>A
XM_006713691.2:c.-210C>A (IFT122)	XP_006713754.1:n.-210C>A
XM_006713692.2:c.-210C>A (IFT122)	XP_006713755.1:n.-210C>A
XM_006713695.2:c.-210C>A (IFT122)	XP_006713758.1:n.-210C>A
XM_011512969.1:c.-583C>A (IFT122)	XP_011511271.1:n.-583C>A
XM_011512971.1:c.-583C>A (IFT122)	XP_011511273.1:n.-583C>A
XM_011512972.1:c.-210C>A (IFT122)	XP_011511274.1:n.-210C>A
XM_017006831.1:c.-583C>A (IFT122)	XP_016862320.1:n.-583C>A
XM_017006835.1:c.-583C>A (IFT122)	XP_016862324.1:n.-583C>A