Canonical Allele Identifier: CA493031549

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2077957
• ClinVar RCV Id: RCV002993535
• dbSNP Id: rs1340703438
• gnomAD v2: 16-1561092-G-A
• gnomAD v3: 16-1511091-G-A
• gnomAD v4: 16-1511091-G-A
• MyVariant Identifiers: chr16:g.1561092G>A (hg19) ; chr16:g.1511091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511091G>A , CM000678.2:g.1511091G>A	GRCh38
NC_000016.9:g.1561092G>A , CM000678.1:g.1561092G>A	GRCh37
NC_000016.8:g.1501093G>A	NCBI36
NG_032783.1:g.106018C>T
NG_050910.1:g.22748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4242C>T MANE Select	ENSP00000406012.2:p.Tyr1414=
ENST00000361339.9:c.1824C>T	ENSP00000354895.5:p.Tyr608=
ENST00000397417.6:c.*2680C>T	ENSP00000380562.2:n.*2680C>T
ENST00000426508.6:c.4242C>T	ENSP00000406012.2:p.Tyr1414=
ENST00000565298.5:n.4066C>T
NM_014714.3:c.4242C>T	NP_055529.2:p.Tyr1414=
XM_006720989.2:c.4242C>T	XP_006721052.1:p.Tyr1414=
XM_006720990.2:c.4242C>T	XP_006721053.1:p.Tyr1414=
XM_006720991.2:c.4242C>T	XP_006721054.1:p.Tyr1414=
XM_006720992.2:c.1875C>T	XP_006721055.1:p.Tyr625=
XM_011522766.1:c.3996C>T	XP_011521068.1:p.Tyr1332=
XM_011522767.1:c.3267C>T	XP_011521069.1:p.Tyr1089=
XM_006720990.3:c.4242C>T	XP_006721053.1:p.Tyr1414=
XM_006720991.3:c.4242C>T	XP_006721054.1:p.Tyr1414=
XM_006720992.3:c.1875C>T	XP_006721055.1:p.Tyr625=
XM_011522766.3:c.3996C>T	XP_011521068.1:p.Tyr1332=
XM_011522767.2:c.3267C>T	XP_011521069.1:p.Tyr1089=
XM_017023910.1:c.4242C>T	XP_016879399.1:p.Tyr1414=
XM_017023911.1:c.2427C>T	XP_016879400.1:p.Tyr809=
NM_014714.4:c.4242C>T MANE Select	NP_055529.2:p.Tyr1414=