Canonical Allele Identifier: CA394227429

Gene: IFT140

Linked Data

• gnomAD v4: 16-1525980-G-A
• MyVariant Identifiers: chr16:g.1575981G>A (hg19) ; chr16:g.1525980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525980G>A , CM000678.2:g.1525980G>A	GRCh38
NC_000016.9:g.1575981G>A , CM000678.1:g.1575981G>A	GRCh37
NC_000016.8:g.1515982G>A	NCBI36
NG_032783.1:g.91129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2675C>T MANE Select	ENSP00000406012.2:p.Ala892Val
ENST00000361339.9:c.257C>T	ENSP00000354895.5:p.Ala86Val
ENST00000397417.6:c.*1113C>T	ENSP00000380562.2:n.*1113C>T
ENST00000426508.6:c.2675C>T	ENSP00000406012.2:p.Ala892Val
ENST00000565298.5:n.1904C>T
ENST00000566818.1:n.390C>T
NM_014714.3:c.2675C>T	NP_055529.2:p.Ala892Val
XM_006720989.2:c.2675C>T	XP_006721052.1:p.Ala892Val
XM_006720990.2:c.2675C>T	XP_006721053.1:p.Ala892Val
XM_006720991.2:c.2675C>T	XP_006721054.1:p.Ala892Val
XM_006720992.2:c.308C>T	XP_006721055.1:p.Ala103Val
XM_011522766.1:c.2429C>T	XP_011521068.1:p.Ala810Val
XM_011522767.1:c.1700C>T	XP_011521069.1:p.Ala567Val
XM_006720990.3:c.2675C>T	XP_006721053.1:p.Ala892Val
XM_006720991.3:c.2675C>T	XP_006721054.1:p.Ala892Val
XM_006720992.3:c.308C>T	XP_006721055.1:p.Ala103Val
XM_011522766.3:c.2429C>T	XP_011521068.1:p.Ala810Val
XM_011522767.2:c.1700C>T	XP_011521069.1:p.Ala567Val
XM_017023910.1:c.2675C>T	XP_016879399.1:p.Ala892Val
XM_017023911.1:c.860C>T	XP_016879400.1:p.Ala287Val
NM_014714.4:c.2675C>T MANE Select	NP_055529.2:p.Ala892Val