Canonical Allele Identifier: CA394225298

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2330689
• ClinVar RCV Id: RCV002935049
• gnomAD v4: 16-1523592-C-T
• MyVariant Identifiers: chr16:g.1573593C>T (hg19) ; chr16:g.1523592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523592C>T , CM000678.2:g.1523592C>T	GRCh38
NC_000016.9:g.1573593C>T , CM000678.1:g.1573593C>T	GRCh37
NC_000016.8:g.1513594C>T	NCBI36
NG_032783.1:g.93517G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3379G>A MANE Select	ENSP00000406012.2:p.Ala1127Thr
ENST00000361339.9:c.961G>A	ENSP00000354895.5:p.Ala321Thr
ENST00000397417.6:c.*1817G>A	ENSP00000380562.2:n.*1817G>A
ENST00000426508.6:c.3379G>A	ENSP00000406012.2:p.Ala1127Thr
ENST00000565298.5:n.3203G>A
NM_014714.3:c.3379G>A	NP_055529.2:p.Ala1127Thr
XM_006720989.2:c.3379G>A	XP_006721052.1:p.Ala1127Thr
XM_006720990.2:c.3379G>A	XP_006721053.1:p.Ala1127Thr
XM_006720991.2:c.3379G>A	XP_006721054.1:p.Ala1127Thr
XM_006720992.2:c.1012G>A	XP_006721055.1:p.Ala338Thr
XM_011522766.1:c.3133G>A	XP_011521068.1:p.Ala1045Thr
XM_011522767.1:c.2404G>A	XP_011521069.1:p.Ala802Thr
XM_006720990.3:c.3379G>A	XP_006721053.1:p.Ala1127Thr
XM_006720991.3:c.3379G>A	XP_006721054.1:p.Ala1127Thr
XM_006720992.3:c.1012G>A	XP_006721055.1:p.Ala338Thr
XM_011522766.3:c.3133G>A	XP_011521068.1:p.Ala1045Thr
XM_011522767.2:c.2404G>A	XP_011521069.1:p.Ala802Thr
XM_017023910.1:c.3379G>A	XP_016879399.1:p.Ala1127Thr
XM_017023911.1:c.1564G>A	XP_016879400.1:p.Ala522Thr
NM_014714.4:c.3379G>A MANE Select	NP_055529.2:p.Ala1127Thr