Canonical Allele Identifier: CA493031472

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520182-G-A
• MyVariant Identifiers: chr16:g.1570183G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520182G>A , CM000678.2:g.1520182G>A	GRCh38
NC_000016.9:g.1570183G>A , CM000678.1:g.1570183G>A	GRCh37
NC_000016.8:g.1510184G>A	NCBI36
NG_032783.1:g.96927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3822C>T MANE Select	ENSP00000406012.2:p.Thr1274=
ENST00000361339.9:c.1404C>T	ENSP00000354895.5:p.Thr468=
ENST00000397417.6:c.*2260C>T	ENSP00000380562.2:n.*2260C>T
ENST00000426508.6:c.3822C>T	ENSP00000406012.2:p.Thr1274=
ENST00000565298.5:n.3646C>T
NM_014714.3:c.3822C>T	NP_055529.2:p.Thr1274=
XM_006720989.2:c.3822C>T	XP_006721052.1:p.Thr1274=
XM_006720990.2:c.3822C>T	XP_006721053.1:p.Thr1274=
XM_006720991.2:c.3822C>T	XP_006721054.1:p.Thr1274=
XM_006720992.2:c.1455C>T	XP_006721055.1:p.Thr485=
XM_011522766.1:c.3576C>T	XP_011521068.1:p.Thr1192=
XM_011522767.1:c.2847C>T	XP_011521069.1:p.Thr949=
XM_006720990.3:c.3822C>T	XP_006721053.1:p.Thr1274=
XM_006720991.3:c.3822C>T	XP_006721054.1:p.Thr1274=
XM_006720992.3:c.1455C>T	XP_006721055.1:p.Thr485=
XM_011522766.3:c.3576C>T	XP_011521068.1:p.Thr1192=
XM_011522767.2:c.2847C>T	XP_011521069.1:p.Thr949=
XM_017023910.1:c.3822C>T	XP_016879399.1:p.Thr1274=
XM_017023911.1:c.2007C>T	XP_016879400.1:p.Thr669=
NM_014714.4:c.3822C>T MANE Select	NP_055529.2:p.Thr1274=