Canonical Allele Identifier: CA394227448

Gene: IFT140

Linked Data

• gnomAD v4: 16-1525985-C-A
• MyVariant Identifiers: chr16:g.1575986C>A (hg19) ; chr16:g.1525985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525985C>A , CM000678.2:g.1525985C>A	GRCh38
NC_000016.9:g.1575986C>A , CM000678.1:g.1575986C>A	GRCh37
NC_000016.8:g.1515987C>A	NCBI36
NG_032783.1:g.91124G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2670G>T MANE Select	ENSP00000406012.2:p.Gln890His
ENST00000361339.9:c.252G>T	ENSP00000354895.5:p.Gln84His
ENST00000397417.6:c.*1108G>T	ENSP00000380562.2:n.*1108G>T
ENST00000426508.6:c.2670G>T	ENSP00000406012.2:p.Gln890His
ENST00000565298.5:n.1899G>T
ENST00000566818.1:n.385G>T
NM_014714.3:c.2670G>T	NP_055529.2:p.Gln890His
XM_006720989.2:c.2670G>T	XP_006721052.1:p.Gln890His
XM_006720990.2:c.2670G>T	XP_006721053.1:p.Gln890His
XM_006720991.2:c.2670G>T	XP_006721054.1:p.Gln890His
XM_006720992.2:c.303G>T	XP_006721055.1:p.Gln101His
XM_011522766.1:c.2424G>T	XP_011521068.1:p.Gln808His
XM_011522767.1:c.1695G>T	XP_011521069.1:p.Gln565His
XM_006720990.3:c.2670G>T	XP_006721053.1:p.Gln890His
XM_006720991.3:c.2670G>T	XP_006721054.1:p.Gln890His
XM_006720992.3:c.303G>T	XP_006721055.1:p.Gln101His
XM_011522766.3:c.2424G>T	XP_011521068.1:p.Gln808His
XM_011522767.2:c.1695G>T	XP_011521069.1:p.Gln565His
XM_017023910.1:c.2670G>T	XP_016879399.1:p.Gln890His
XM_017023911.1:c.855G>T	XP_016879400.1:p.Gln285His
NM_014714.4:c.2670G>T MANE Select	NP_055529.2:p.Gln890His