Canonical Allele Identifier: CA394224322

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520183-G-T
• MyVariant Identifiers: chr16:g.1570184G>T (hg19) ; chr16:g.1520183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520183G>T , CM000678.2:g.1520183G>T	GRCh38
NC_000016.9:g.1570184G>T , CM000678.1:g.1570184G>T	GRCh37
NC_000016.8:g.1510185G>T	NCBI36
NG_032783.1:g.96926C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3821C>A MANE Select	ENSP00000406012.2:p.Thr1274Asn
ENST00000361339.9:c.1403C>A	ENSP00000354895.5:p.Thr468Asn
ENST00000397417.6:c.*2259C>A	ENSP00000380562.2:n.*2259C>A
ENST00000426508.6:c.3821C>A	ENSP00000406012.2:p.Thr1274Asn
ENST00000565298.5:n.3645C>A
NM_014714.3:c.3821C>A	NP_055529.2:p.Thr1274Asn
XM_006720989.2:c.3821C>A	XP_006721052.1:p.Thr1274Asn
XM_006720990.2:c.3821C>A	XP_006721053.1:p.Thr1274Asn
XM_006720991.2:c.3821C>A	XP_006721054.1:p.Thr1274Asn
XM_006720992.2:c.1454C>A	XP_006721055.1:p.Thr485Asn
XM_011522766.1:c.3575C>A	XP_011521068.1:p.Thr1192Asn
XM_011522767.1:c.2846C>A	XP_011521069.1:p.Thr949Asn
XM_006720990.3:c.3821C>A	XP_006721053.1:p.Thr1274Asn
XM_006720991.3:c.3821C>A	XP_006721054.1:p.Thr1274Asn
XM_006720992.3:c.1454C>A	XP_006721055.1:p.Thr485Asn
XM_011522766.3:c.3575C>A	XP_011521068.1:p.Thr1192Asn
XM_011522767.2:c.2846C>A	XP_011521069.1:p.Thr949Asn
XM_017023910.1:c.3821C>A	XP_016879399.1:p.Thr1274Asn
XM_017023911.1:c.2006C>A	XP_016879400.1:p.Thr669Asn
NM_014714.4:c.3821C>A MANE Select	NP_055529.2:p.Thr1274Asn