Canonical Allele Identifier: CA7812837

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1598532
• ClinVar RCV Id: RCV002122600 ; RCV002479915
• dbSNP Id: rs371461352
• ExAC: 16:1561171 A / G
• gnomAD v2: 16-1561171-A-G
• gnomAD v3: 16-1511170-A-G
• gnomAD v4: 16-1511170-A-G
• MyVariant Identifiers: chr16:g.1561171A>G (hg19) ; chr16:g.1561171_1561172delinsGT (hg19) ; chr16:g.1511170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511170A>G , CM000678.2:g.1511170A>G	GRCh38
NC_000016.9:g.1561171A>G , CM000678.1:g.1561171A>G	GRCh37
NC_000016.8:g.1501172A>G	NCBI36
NG_032783.1:g.105939T>C
NG_050910.1:g.22827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-20T>C MANE Select	ENSP00000406012.2:n.4183-20T>C
ENST00000361339.9:c.1765-20T>C	ENSP00000354895.5:n.1765-20T>C
ENST00000397417.6:c.*2621-20T>C	ENSP00000380562.2:n.*2621-20T>C
ENST00000426508.6:c.4183-20T>C	ENSP00000406012.2:n.4183-20T>C
ENST00000565298.5:n.4007-20T>C
NM_014714.3:c.4183-20T>C	NP_055529.2:n.4183-20T>C
XM_006720989.2:c.4183-20T>C	XP_006721052.1:n.4183-20T>C
XM_006720990.2:c.4183-20T>C	XP_006721053.1:n.4183-20T>C
XM_006720991.2:c.4183-20T>C	XP_006721054.1:n.4183-20T>C
XM_006720992.2:c.1816-20T>C	XP_006721055.1:n.1816-20T>C
XM_011522766.1:c.3937-20T>C	XP_011521068.1:n.3937-20T>C
XM_011522767.1:c.3208-20T>C	XP_011521069.1:n.3208-20T>C
XM_006720990.3:c.4183-20T>C	XP_006721053.1:n.4183-20T>C
XM_006720991.3:c.4183-20T>C	XP_006721054.1:n.4183-20T>C
XM_006720992.3:c.1816-20T>C	XP_006721055.1:n.1816-20T>C
XM_011522766.3:c.3937-20T>C	XP_011521068.1:n.3937-20T>C
XM_011522767.2:c.3208-20T>C	XP_011521069.1:n.3208-20T>C
XM_017023910.1:c.4183-20T>C	XP_016879399.1:n.4183-20T>C
XM_017023911.1:c.2368-20T>C	XP_016879400.1:n.2368-20T>C
NM_014714.4:c.4183-20T>C MANE Select	NP_055529.2:n.4183-20T>C