Canonical Allele Identifier: CA394214671

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2100110
• ClinVar RCV Id: RCV003033402
• dbSNP Id: rs1463121305
• gnomAD v2: 16-1634309-G-T
• gnomAD v4: 16-1584308-G-T
• MyVariant Identifiers: chr16:g.1634309G>T (hg19) ; chr16:g.1584308G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584308G>T , CM000678.2:g.1584308G>T	GRCh38
NC_000016.9:g.1634309G>T , CM000678.1:g.1634309G>T	GRCh37
NC_000016.8:g.1574310G>T	NCBI36
NG_032783.1:g.32801C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1268C>A MANE Select	ENSP00000406012.2:p.Ser423Tyr
ENST00000397417.6:c.441C>A	ENSP00000380562.2:p.Leu147=
ENST00000426508.6:c.1268C>A	ENSP00000406012.2:p.Ser423Tyr
ENST00000439987.6:n.1329C>A
NM_014714.3:c.1268C>A	NP_055529.2:p.Ser423Tyr
XM_005255725.3:c.1268C>A	XP_005255782.1:p.Ser423Tyr
XM_005255726.2:c.1268C>A	XP_005255783.1:p.Ser423Tyr
XM_006720989.2:c.1268C>A	XP_006721052.1:p.Ser423Tyr
XM_006720990.2:c.1268C>A	XP_006721053.1:p.Ser423Tyr
XM_006720991.2:c.1268C>A	XP_006721054.1:p.Ser423Tyr
XM_011522766.1:c.1268C>A	XP_011521068.1:p.Ser423Tyr
XM_011522767.1:c.293C>A	XP_011521069.1:p.Ser98Tyr
XM_011522768.1:c.1268C>A	XP_011521070.1:p.Ser423Tyr
XM_011522769.1:c.1268C>A	XP_011521071.1:p.Ser423Tyr
XM_011522771.1:c.1268C>A	XP_011521073.1:p.Ser423Tyr
XM_011522772.1:c.1268C>A	XP_011521074.1:p.Ser423Tyr
NR_135176.1:n.59+3723G>T
XM_005255725.5:c.1268C>A	XP_005255782.1:p.Ser423Tyr
XM_005255726.4:c.1268C>A	XP_005255783.1:p.Ser423Tyr
XM_006720990.3:c.1268C>A	XP_006721053.1:p.Ser423Tyr
XM_006720991.3:c.1268C>A	XP_006721054.1:p.Ser423Tyr
XM_011522766.3:c.1268C>A	XP_011521068.1:p.Ser423Tyr
XM_011522767.2:c.293C>A	XP_011521069.1:p.Ser98Tyr
XM_011522769.3:c.1268C>A	XP_011521071.1:p.Ser423Tyr
XM_011522771.3:c.1268C>A	XP_011521073.1:p.Ser423Tyr
XM_011522772.3:c.1268C>A	XP_011521074.1:p.Ser423Tyr
XM_017023910.1:c.1268C>A	XP_016879399.1:p.Ser423Tyr
XM_017023911.1:c.-430C>A	XP_016879400.1:n.-430C>A
NM_014714.4:c.1268C>A MANE Select	NP_055529.2:p.Ser423Tyr