Canonical Allele Identifier: CA394225036

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520768-C-T
• MyVariant Identifiers: chr16:g.1570769C>T (hg19) ; chr16:g.1520768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520768C>T , CM000678.2:g.1520768C>T	GRCh38
NC_000016.9:g.1570769C>T , CM000678.1:g.1570769C>T	GRCh37
NC_000016.8:g.1510770C>T	NCBI36
NG_032783.1:g.96341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3494G>A MANE Select	ENSP00000406012.2:p.Ser1165Asn
ENST00000361339.9:c.1076G>A	ENSP00000354895.5:p.Ser359Asn
ENST00000397417.6:c.*1932G>A	ENSP00000380562.2:n.*1932G>A
ENST00000426508.6:c.3494G>A	ENSP00000406012.2:p.Ser1165Asn
ENST00000565298.5:n.3318G>A
NM_014714.3:c.3494G>A	NP_055529.2:p.Ser1165Asn
XM_006720989.2:c.3494G>A	XP_006721052.1:p.Ser1165Asn
XM_006720990.2:c.3494G>A	XP_006721053.1:p.Ser1165Asn
XM_006720991.2:c.3494G>A	XP_006721054.1:p.Ser1165Asn
XM_006720992.2:c.1127G>A	XP_006721055.1:p.Ser376Asn
XM_011522766.1:c.3248G>A	XP_011521068.1:p.Ser1083Asn
XM_011522767.1:c.2519G>A	XP_011521069.1:p.Ser840Asn
XM_006720990.3:c.3494G>A	XP_006721053.1:p.Ser1165Asn
XM_006720991.3:c.3494G>A	XP_006721054.1:p.Ser1165Asn
XM_006720992.3:c.1127G>A	XP_006721055.1:p.Ser376Asn
XM_011522766.3:c.3248G>A	XP_011521068.1:p.Ser1083Asn
XM_011522767.2:c.2519G>A	XP_011521069.1:p.Ser840Asn
XM_017023910.1:c.3494G>A	XP_016879399.1:p.Ser1165Asn
XM_017023911.1:c.1679G>A	XP_016879400.1:p.Ser560Asn
NM_014714.4:c.3494G>A MANE Select	NP_055529.2:p.Ser1165Asn