Canonical Allele Identifier: CA2605502

Gene: IFT122 MBD4

Linked Data

• ClinVar Variation Id: 2353473
• ClinVar RCV Id: RCV002969213 ; RCV003699004
• dbSNP Id: rs764948774
• ExAC: 3:129155900 G / A
• gnomAD v2: 3-129155900-G-A
• gnomAD v4: 3-129437057-G-A
• MyVariant Identifiers: chr3:g.129155900G>A (hg19) ; chr3:g.129437057G>A (hg38)

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