Canonical Allele Identifier: CA7813326
Gene: IFT140 HGNC NCBI

Linked Data

dbSNP Id: rs137995818
gnomAD v2: 16-1574615-C-G
gnomAD v3: 16-1524614-C-G
gnomAD v4: 16-1524614-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1524614C>G , CM000678.2:g.1524614C>G GRCh38
NC_000016.9:g.1574615C>G , CM000678.1:g.1574615C>G GRCh37
NC_000016.8:g.1514616C>G NCBI36
NG_032783.1:g.92495G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.3079G>C MANE Select ENSP00000406012.2:p.Gly1027Arg
ENST00000361339.9:c.661G>C ENSP00000354895.5:p.Gly221Arg
ENST00000397417.6:c.*1517G>C ENSP00000380562.2:n.*1517G>C
ENST00000426508.6:c.3079G>C ENSP00000406012.2:p.Gly1027Arg
ENST00000565298.5:n.2308G>C
NM_014714.3:c.3079G>C NP_055529.2:p.Gly1027Arg
XM_006720989.2:c.3079G>C XP_006721052.1:p.Gly1027Arg
XM_006720990.2:c.3079G>C XP_006721053.1:p.Gly1027Arg
XM_006720991.2:c.3079G>C XP_006721054.1:p.Gly1027Arg
XM_006720992.2:c.712G>C XP_006721055.1:p.Gly238Arg
XM_011522766.1:c.2833G>C XP_011521068.1:p.Gly945Arg
XM_011522767.1:c.2104G>C XP_011521069.1:p.Gly702Arg
XM_006720990.3:c.3079G>C XP_006721053.1:p.Gly1027Arg
XM_006720991.3:c.3079G>C XP_006721054.1:p.Gly1027Arg
XM_006720992.3:c.712G>C XP_006721055.1:p.Gly238Arg
XM_011522766.3:c.2833G>C XP_011521068.1:p.Gly945Arg
XM_011522767.2:c.2104G>C XP_011521069.1:p.Gly702Arg
XM_017023910.1:c.3079G>C XP_016879399.1:p.Gly1027Arg
XM_017023911.1:c.1264G>C XP_016879400.1:p.Gly422Arg
NM_014714.4:c.3079G>C MANE Select NP_055529.2:p.Gly1027Arg