Canonical Allele Identifier: CA394222567

Gene: IFT140

Linked Data

• gnomAD v4: 16-1511141-A-C
• MyVariant Identifiers: chr16:g.1561142A>C (hg19) ; chr16:g.1511141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511141A>C , CM000678.2:g.1511141A>C	GRCh38
NC_000016.9:g.1561142A>C , CM000678.1:g.1561142A>C	GRCh37
NC_000016.8:g.1501143A>C	NCBI36
NG_032783.1:g.105968T>G
NG_050910.1:g.22798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4192T>G MANE Select	ENSP00000406012.2:p.Phe1398Val
ENST00000361339.9:c.1774T>G	ENSP00000354895.5:p.Phe592Val
ENST00000397417.6:c.*2630T>G	ENSP00000380562.2:n.*2630T>G
ENST00000426508.6:c.4192T>G	ENSP00000406012.2:p.Phe1398Val
ENST00000565298.5:n.4016T>G
NM_014714.3:c.4192T>G	NP_055529.2:p.Phe1398Val
XM_006720989.2:c.4192T>G	XP_006721052.1:p.Phe1398Val
XM_006720990.2:c.4192T>G	XP_006721053.1:p.Phe1398Val
XM_006720991.2:c.4192T>G	XP_006721054.1:p.Phe1398Val
XM_006720992.2:c.1825T>G	XP_006721055.1:p.Phe609Val
XM_011522766.1:c.3946T>G	XP_011521068.1:p.Phe1316Val
XM_011522767.1:c.3217T>G	XP_011521069.1:p.Phe1073Val
XM_006720990.3:c.4192T>G	XP_006721053.1:p.Phe1398Val
XM_006720991.3:c.4192T>G	XP_006721054.1:p.Phe1398Val
XM_006720992.3:c.1825T>G	XP_006721055.1:p.Phe609Val
XM_011522766.3:c.3946T>G	XP_011521068.1:p.Phe1316Val
XM_011522767.2:c.3217T>G	XP_011521069.1:p.Phe1073Val
XM_017023910.1:c.4192T>G	XP_016879399.1:p.Phe1398Val
XM_017023911.1:c.2377T>G	XP_016879400.1:p.Phe793Val
NM_014714.4:c.4192T>G MANE Select	NP_055529.2:p.Phe1398Val