Canonical Allele Identifier: CA324008287
Gene: IFT27 HGNC NCBI
CACNG2-DT HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36766140A>G , CM000684.2:g.36766140A>G GRCh38
NC_000022.10:g.37162184A>G , CM000684.1:g.37162184A>G GRCh37
NC_000022.9:g.35492130A>G NCBI36
NG_034205.1:g.14994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433985.7:c.232T>C (IFT27) MANE Select ENSP00000393541.2:p.Leu78=
ENST00000340630.9:c.229T>C (IFT27) ENSP00000343593.5:p.Leu77=
ENST00000415653.5:c.155T>C (IFT27)
ENST00000417951.6:c.349T>C (IFT27) ENSP00000392016.2:p.Leu117=
ENST00000430701.5:c.229T>C (IFT27) ENSP00000390016.1:p.Leu77=
ENST00000433985.6:c.232T>C (IFT27) ENSP00000393541.2:p.Leu78=
ENST00000440696.2:c.109T>C (IFT27) ENSP00000399606.2:p.Leu37=
ENST00000471809.5:n.647T>C (IFT27)
ENST00000495555.6:n.315T>C (IFT27)
NM_001177701.2:c.232T>C (IFT27) NP_001171172.1:p.Leu78=
NM_006860.4:c.229T>C (IFT27) NP_006851.1:p.Leu77=
XM_006724106.2:c.232T>C (IFT27) XP_006724169.1:p.Leu78=
NM_001363003.1:c.232T>C (IFT27) NP_001349932.1:p.Leu78=
NR_134623.1:n.238-204A>G (CACNG2-DT)
XM_017028540.2:c.109T>C (IFT27) XP_016884029.1:p.Leu37=
NM_001177701.3:c.232T>C (IFT27) MANE Select NP_001171172.1:p.Leu78=
NM_001363003.2:c.232T>C (IFT27) NP_001349932.1:p.Leu78=
NM_006860.5:c.229T>C (IFT27) NP_006851.1:p.Leu77=