Canonical Allele Identifier: CA7813500

Gene: IFT140

Linked Data

• ClinVar Variation Id: 885573
• ClinVar RCV Id: RCV001117221
• dbSNP Id: rs756491638
• ExAC: 16:1575876 G / A
• gnomAD v2: 16-1575876-G-A
• gnomAD v3: 16-1525875-G-A
• gnomAD v4: 16-1525875-G-A
• MyVariant Identifiers: chr16:g.1575876G>A (hg19) ; chr16:g.1525875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525875G>A , CM000678.2:g.1525875G>A	GRCh38
NC_000016.9:g.1575876G>A , CM000678.1:g.1575876G>A	GRCh37
NC_000016.8:g.1515877G>A	NCBI36
NG_032783.1:g.91234C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2768+12C>T MANE Select	ENSP00000406012.2:n.2768+12C>T
ENST00000361339.9:c.350+12C>T	ENSP00000354895.5:n.350+12C>T
ENST00000397417.6:c.*1206+12C>T	ENSP00000380562.2:n.*1206+12C>T
ENST00000426508.6:c.2768+12C>T	ENSP00000406012.2:n.2768+12C>T
ENST00000565298.5:n.1997+12C>T
ENST00000566818.1:n.483+12C>T
NM_014714.3:c.2768+12C>T	NP_055529.2:n.2768+12C>T
XM_006720989.2:c.2768+12C>T	XP_006721052.1:n.2768+12C>T
XM_006720990.2:c.2768+12C>T	XP_006721053.1:n.2768+12C>T
XM_006720991.2:c.2768+12C>T	XP_006721054.1:n.2768+12C>T
XM_006720992.2:c.401+12C>T	XP_006721055.1:n.401+12C>T
XM_011522766.1:c.2522+12C>T	XP_011521068.1:n.2522+12C>T
XM_011522767.1:c.1793+12C>T	XP_011521069.1:n.1793+12C>T
XM_006720990.3:c.2768+12C>T	XP_006721053.1:n.2768+12C>T
XM_006720991.3:c.2768+12C>T	XP_006721054.1:n.2768+12C>T
XM_006720992.3:c.401+12C>T	XP_006721055.1:n.401+12C>T
XM_011522766.3:c.2522+12C>T	XP_011521068.1:n.2522+12C>T
XM_011522767.2:c.1793+12C>T	XP_011521069.1:n.1793+12C>T
XM_017023910.1:c.2768+12C>T	XP_016879399.1:n.2768+12C>T
XM_017023911.1:c.953+12C>T	XP_016879400.1:n.953+12C>T
NM_014714.4:c.2768+12C>T MANE Select	NP_055529.2:n.2768+12C>T