Canonical Allele Identifier: CA411383445

Gene: IFT27 CACNG2-DT

Linked Data

• ClinVar Variation Id: 1025802
• ClinVar RCV Id: RCV001326163
• dbSNP Id: rs1569075621
• MyVariant Identifiers: chr22:g.37160065C>A (hg19) ; chr22:g.36764021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36764021C>A , CM000684.2:g.36764021C>A	GRCh38
NC_000022.10:g.37160065C>A , CM000684.1:g.37160065C>A	GRCh37
NC_000022.9:g.35490011C>A	NCBI36
NG_034205.1:g.17113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433985.7:c.250G>T (IFT27) MANE Select	ENSP00000393541.2:p.Val84Phe
ENST00000340630.9:c.247G>T (IFT27)	ENSP00000343593.5:p.Val83Phe
ENST00000415653.5:c.173G>T (IFT27)
ENST00000417951.6:c.367G>T (IFT27)	ENSP00000392016.2:p.Val123Phe
ENST00000430701.5:c.247G>T (IFT27)	ENSP00000390016.1:p.Val83Phe
ENST00000433985.6:c.250G>T (IFT27)	ENSP00000393541.2:p.Val84Phe
ENST00000440696.2:c.127G>T (IFT27)	ENSP00000399606.2:p.Val43Phe
ENST00000471809.5:n.665G>T (IFT27)
ENST00000495555.6:n.333G>T (IFT27)
NM_001177701.2:c.250G>T (IFT27)	NP_001171172.1:p.Val84Phe
NM_006860.4:c.247G>T (IFT27)	NP_006851.1:p.Val83Phe
XM_006724106.2:c.250G>T (IFT27)	XP_006724169.1:p.Val84Phe
NM_001363003.1:c.250G>T (IFT27)	NP_001349932.1:p.Val84Phe
NR_134623.1:n.238-2323C>A (CACNG2-DT)
XM_017028540.2:c.127G>T (IFT27)	XP_016884029.1:p.Val43Phe
NM_001177701.3:c.250G>T (IFT27) MANE Select	NP_001171172.1:p.Val84Phe
NM_001363003.2:c.250G>T (IFT27)	NP_001349932.1:p.Val84Phe
NM_006860.5:c.247G>T (IFT27)	NP_006851.1:p.Val83Phe