Canonical Allele Identifier: CA7813536

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1998405
• ClinVar RCV Id: RCV002792165
• dbSNP Id: rs761522130
• ExAC: 16:1575977 C / T
• gnomAD v2: 16-1575977-C-T
• gnomAD v4: 16-1525976-C-T
• MyVariant Identifiers: chr16:g.1575977C>T (hg19) ; chr16:g.1525976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525976C>T , CM000678.2:g.1525976C>T	GRCh38
NC_000016.9:g.1575977C>T , CM000678.1:g.1575977C>T	GRCh37
NC_000016.8:g.1515978C>T	NCBI36
NG_032783.1:g.91133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2679G>A MANE Select	ENSP00000406012.2:p.Glu893=
ENST00000361339.9:c.261G>A	ENSP00000354895.5:p.Glu87=
ENST00000397417.6:c.*1117G>A	ENSP00000380562.2:n.*1117G>A
ENST00000426508.6:c.2679G>A	ENSP00000406012.2:p.Glu893=
ENST00000565298.5:n.1908G>A
ENST00000566818.1:n.394G>A
NM_014714.3:c.2679G>A	NP_055529.2:p.Glu893=
XM_006720989.2:c.2679G>A	XP_006721052.1:p.Glu893=
XM_006720990.2:c.2679G>A	XP_006721053.1:p.Glu893=
XM_006720991.2:c.2679G>A	XP_006721054.1:p.Glu893=
XM_006720992.2:c.312G>A	XP_006721055.1:p.Glu104=
XM_011522766.1:c.2433G>A	XP_011521068.1:p.Glu811=
XM_011522767.1:c.1704G>A	XP_011521069.1:p.Glu568=
XM_006720990.3:c.2679G>A	XP_006721053.1:p.Glu893=
XM_006720991.3:c.2679G>A	XP_006721054.1:p.Glu893=
XM_006720992.3:c.312G>A	XP_006721055.1:p.Glu104=
XM_011522766.3:c.2433G>A	XP_011521068.1:p.Glu811=
XM_011522767.2:c.1704G>A	XP_011521069.1:p.Glu568=
XM_017023910.1:c.2679G>A	XP_016879399.1:p.Glu893=
XM_017023911.1:c.864G>A	XP_016879400.1:p.Glu288=
NM_014714.4:c.2679G>A MANE Select	NP_055529.2:p.Glu893=