Canonical Allele Identifier: CA492923458

Gene: IFT140

Linked Data

• gnomAD v4: 16-1566235-C-A
• MyVariant Identifiers: chr16:g.1616236C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566235C>A , CM000678.2:g.1566235C>A	GRCh38
NC_000016.9:g.1616236C>A , CM000678.1:g.1616236C>A	GRCh37
NC_000016.8:g.1556237C>A	NCBI36
NG_032783.1:g.50874G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.1827G>T MANE Select	ENSP00000406012.2:p.Val609=
ENST00000397417.6:c.*379G>T	ENSP00000380562.2:n.*379G>T
ENST00000426508.6:c.1827G>T	ENSP00000406012.2:p.Val609=
ENST00000439987.6:n.1888G>T
ENST00000565298.5:n.515G>T
NM_014714.3:c.1827G>T	NP_055529.2:p.Val609=
XM_005255725.3:c.1827G>T	XP_005255782.1:p.Val609=
XM_005255726.2:c.1827G>T	XP_005255783.1:p.Val609=
XM_006720989.2:c.1827G>T	XP_006721052.1:p.Val609=
XM_006720990.2:c.1827G>T	XP_006721053.1:p.Val609=
XM_006720991.2:c.1827G>T	XP_006721054.1:p.Val609=
XM_011522766.1:c.1581G>T	XP_011521068.1:p.Val527=
XM_011522767.1:c.852G>T	XP_011521069.1:p.Val284=
XM_011522768.1:c.1827G>T	XP_011521070.1:p.Val609=
XM_011522769.1:c.1827G>T	XP_011521071.1:p.Val609=
XM_011522771.1:c.1827G>T	XP_011521073.1:p.Val609=
XM_011522772.1:c.1827G>T	XP_011521074.1:p.Val609=
XM_005255725.5:c.1827G>T	XP_005255782.1:p.Val609=
XM_005255726.4:c.1827G>T	XP_005255783.1:p.Val609=
XM_006720990.3:c.1827G>T	XP_006721053.1:p.Val609=
XM_006720991.3:c.1827G>T	XP_006721054.1:p.Val609=
XM_011522766.3:c.1581G>T	XP_011521068.1:p.Val527=
XM_011522767.2:c.852G>T	XP_011521069.1:p.Val284=
XM_011522769.3:c.1827G>T	XP_011521071.1:p.Val609=
XM_011522771.3:c.1827G>T	XP_011521073.1:p.Val609=
XM_011522772.3:c.1827G>T	XP_011521074.1:p.Val609=
XM_017023910.1:c.1827G>T	XP_016879399.1:p.Val609=
XM_017023911.1:c.12G>T	XP_016879400.1:p.Val4=
NM_014714.4:c.1827G>T MANE Select	NP_055529.2:p.Val609=