Canonical Allele Identifier: CA10212405
Gene: IFT27 HGNC NCBI
CACNG2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36763918C>A , CM000684.2:g.36763918C>A GRCh38
NC_000022.10:g.37159962C>A , CM000684.1:g.37159962C>A GRCh37
NC_000022.9:g.35489908C>A NCBI36
NG_034205.1:g.17216G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001177701.3:c.352+1G>T (IFT27) MANE Select NP_001171172.1:n.352+1G>T
ENST00000433985.7:c.352+1G>T (IFT27) MANE Select ENSP00000393541.2:n.352+1G>T
NM_001177701.2:c.352+1G>T (IFT27) NP_001171172.1:n.352+1G>T
NM_001363003.1:c.352+1G>T (IFT27) NP_001349932.1:n.352+1G>T
NM_001363003.2:c.352+1G>T (IFT27) NP_001349932.1:n.352+1G>T
NM_006860.4:c.349+1G>T (IFT27) NP_006851.1:n.349+1G>T
NM_006860.5:c.349+1G>T (IFT27) NP_006851.1:n.349+1G>T
NR_134623.1:n.238-2426C>A (CACNG2-DT)
ENST00000340630.9:c.349+1G>T (IFT27) ENSP00000343593.5:n.349+1G>T
ENST00000415653.5:c.275+1G>T (IFT27)
ENST00000417951.6:c.469+1G>T (IFT27) ENSP00000392016.2:n.469+1G>T
ENST00000433985.6:c.352+1G>T (IFT27) ENSP00000393541.2:n.352+1G>T
ENST00000471809.5:n.768G>T (IFT27)
ENST00000495555.6:n.435+1G>T (IFT27)
XM_006724106.2:c.352+1G>T (IFT27) XP_006724169.1:n.352+1G>T
XM_017028540.2:c.229+1G>T (IFT27) XP_016884029.1:n.229+1G>T