Canonical Allele Identifier: CA492932382

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2645907
• ClinVar RCV Id: RCV003395181
• dbSNP Id: rs377016838
• gnomAD v2: 16-1575980-G-C
• gnomAD v3: 16-1525979-G-C
• gnomAD v4: 16-1525979-G-C
• MyVariant Identifiers: chr16:g.1575980G>C (hg19) ; chr16:g.1525979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525979G>C , CM000678.2:g.1525979G>C	GRCh38
NC_000016.9:g.1575980G>C , CM000678.1:g.1575980G>C	GRCh37
NC_000016.8:g.1515981G>C	NCBI36
NG_032783.1:g.91130C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2676C>G MANE Select	ENSP00000406012.2:p.Ala892=
ENST00000361339.9:c.258C>G	ENSP00000354895.5:p.Ala86=
ENST00000397417.6:c.*1114C>G	ENSP00000380562.2:n.*1114C>G
ENST00000426508.6:c.2676C>G	ENSP00000406012.2:p.Ala892=
ENST00000565298.5:n.1905C>G
ENST00000566818.1:n.391C>G
NM_014714.3:c.2676C>G	NP_055529.2:p.Ala892=
XM_006720989.2:c.2676C>G	XP_006721052.1:p.Ala892=
XM_006720990.2:c.2676C>G	XP_006721053.1:p.Ala892=
XM_006720991.2:c.2676C>G	XP_006721054.1:p.Ala892=
XM_006720992.2:c.309C>G	XP_006721055.1:p.Ala103=
XM_011522766.1:c.2430C>G	XP_011521068.1:p.Ala810=
XM_011522767.1:c.1701C>G	XP_011521069.1:p.Ala567=
XM_006720990.3:c.2676C>G	XP_006721053.1:p.Ala892=
XM_006720991.3:c.2676C>G	XP_006721054.1:p.Ala892=
XM_006720992.3:c.309C>G	XP_006721055.1:p.Ala103=
XM_011522766.3:c.2430C>G	XP_011521068.1:p.Ala810=
XM_011522767.2:c.1701C>G	XP_011521069.1:p.Ala567=
XM_017023910.1:c.2676C>G	XP_016879399.1:p.Ala892=
XM_017023911.1:c.861C>G	XP_016879400.1:p.Ala287=
NM_014714.4:c.2676C>G MANE Select	NP_055529.2:p.Ala892=