Canonical Allele Identifier: CA7813501

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1136966
• ClinVar RCV Id: RCV001472798
• dbSNP Id: rs780735055
• ExAC: 16:1575879 C / T
• gnomAD v2: 16-1575879-C-T
• gnomAD v3: 16-1525878-C-T
• gnomAD v4: 16-1525878-C-T
• MyVariant Identifiers: chr16:g.1575879C>T (hg19) ; chr16:g.1525878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525878C>T , CM000678.2:g.1525878C>T	GRCh38
NC_000016.9:g.1575879C>T , CM000678.1:g.1575879C>T	GRCh37
NC_000016.8:g.1515880C>T	NCBI36
NG_032783.1:g.91231G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2768+9G>A MANE Select	ENSP00000406012.2:n.2768+9G>A
ENST00000361339.9:c.350+9G>A	ENSP00000354895.5:n.350+9G>A
ENST00000397417.6:c.*1206+9G>A	ENSP00000380562.2:n.*1206+9G>A
ENST00000426508.6:c.2768+9G>A	ENSP00000406012.2:n.2768+9G>A
ENST00000565298.5:n.1997+9G>A
ENST00000566818.1:n.483+9G>A
NM_014714.3:c.2768+9G>A	NP_055529.2:n.2768+9G>A
XM_006720989.2:c.2768+9G>A	XP_006721052.1:n.2768+9G>A
XM_006720990.2:c.2768+9G>A	XP_006721053.1:n.2768+9G>A
XM_006720991.2:c.2768+9G>A	XP_006721054.1:n.2768+9G>A
XM_006720992.2:c.401+9G>A	XP_006721055.1:n.401+9G>A
XM_011522766.1:c.2522+9G>A	XP_011521068.1:n.2522+9G>A
XM_011522767.1:c.1793+9G>A	XP_011521069.1:n.1793+9G>A
XM_006720990.3:c.2768+9G>A	XP_006721053.1:n.2768+9G>A
XM_006720991.3:c.2768+9G>A	XP_006721054.1:n.2768+9G>A
XM_006720992.3:c.401+9G>A	XP_006721055.1:n.401+9G>A
XM_011522766.3:c.2522+9G>A	XP_011521068.1:n.2522+9G>A
XM_011522767.2:c.1793+9G>A	XP_011521069.1:n.1793+9G>A
XM_017023910.1:c.2768+9G>A	XP_016879399.1:n.2768+9G>A
XM_017023911.1:c.953+9G>A	XP_016879400.1:n.953+9G>A
NM_014714.4:c.2768+9G>A MANE Select	NP_055529.2:n.2768+9G>A