Canonical Allele Identifier: CA394224926

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570719C>T (hg19) ; chr16:g.1520718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520718C>T , CM000678.2:g.1520718C>T	GRCh38
NC_000016.9:g.1570719C>T , CM000678.1:g.1570719C>T	GRCh37
NC_000016.8:g.1510720C>T	NCBI36
NG_032783.1:g.96391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3544G>A MANE Select	ENSP00000406012.2:p.Asp1182Asn
ENST00000361339.9:c.1126G>A	ENSP00000354895.5:p.Asp376Asn
ENST00000397417.6:c.*1982G>A	ENSP00000380562.2:n.*1982G>A
ENST00000426508.6:c.3544G>A	ENSP00000406012.2:p.Asp1182Asn
ENST00000565298.5:n.3368G>A
NM_014714.3:c.3544G>A	NP_055529.2:p.Asp1182Asn
XM_006720989.2:c.3544G>A	XP_006721052.1:p.Asp1182Asn
XM_006720990.2:c.3544G>A	XP_006721053.1:p.Asp1182Asn
XM_006720991.2:c.3544G>A	XP_006721054.1:p.Asp1182Asn
XM_006720992.2:c.1177G>A	XP_006721055.1:p.Asp393Asn
XM_011522766.1:c.3298G>A	XP_011521068.1:p.Asp1100Asn
XM_011522767.1:c.2569G>A	XP_011521069.1:p.Asp857Asn
XM_006720990.3:c.3544G>A	XP_006721053.1:p.Asp1182Asn
XM_006720991.3:c.3544G>A	XP_006721054.1:p.Asp1182Asn
XM_006720992.3:c.1177G>A	XP_006721055.1:p.Asp393Asn
XM_011522766.3:c.3298G>A	XP_011521068.1:p.Asp1100Asn
XM_011522767.2:c.2569G>A	XP_011521069.1:p.Asp857Asn
XM_017023910.1:c.3544G>A	XP_016879399.1:p.Asp1182Asn
XM_017023911.1:c.1729G>A	XP_016879400.1:p.Asp577Asn
NM_014714.4:c.3544G>A MANE Select	NP_055529.2:p.Asp1182Asn