Canonical Allele Identifier: CA7813098

Gene: IFT140

Linked Data

• ClinVar Variation Id: 318004
• ClinVar RCV Id: RCV000362113 ; RCV001252753 ; RCV002494995 ; RCV003888738
• dbSNP Id: rs147292597
• ExAC: 16:1570661 C / T
• gnomAD v2: 16-1570661-C-T
• gnomAD v3: 16-1520660-C-T
• gnomAD v4: 16-1520660-C-T
• MyVariant Identifiers: chr16:g.1570661C>T (hg19) ; chr16:g.1520660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520660C>T , CM000678.2:g.1520660C>T	GRCh38
NC_000016.9:g.1570661C>T , CM000678.1:g.1570661C>T	GRCh37
NC_000016.8:g.1510662C>T	NCBI36
NG_032783.1:g.96449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3602G>A MANE Select	ENSP00000406012.2:p.Arg1201His
ENST00000361339.9:c.1184G>A	ENSP00000354895.5:p.Arg395His
ENST00000397417.6:c.*2040G>A	ENSP00000380562.2:n.*2040G>A
ENST00000426508.6:c.3602G>A	ENSP00000406012.2:p.Arg1201His
ENST00000565298.5:n.3426G>A
NM_014714.3:c.3602G>A	NP_055529.2:p.Arg1201His
XM_006720989.2:c.3602G>A	XP_006721052.1:p.Arg1201His
XM_006720990.2:c.3602G>A	XP_006721053.1:p.Arg1201His
XM_006720991.2:c.3602G>A	XP_006721054.1:p.Arg1201His
XM_006720992.2:c.1235G>A	XP_006721055.1:p.Arg412His
XM_011522766.1:c.3356G>A	XP_011521068.1:p.Arg1119His
XM_011522767.1:c.2627G>A	XP_011521069.1:p.Arg876His
XM_006720990.3:c.3602G>A	XP_006721053.1:p.Arg1201His
XM_006720991.3:c.3602G>A	XP_006721054.1:p.Arg1201His
XM_006720992.3:c.1235G>A	XP_006721055.1:p.Arg412His
XM_011522766.3:c.3356G>A	XP_011521068.1:p.Arg1119His
XM_011522767.2:c.2627G>A	XP_011521069.1:p.Arg876His
XM_017023910.1:c.3602G>A	XP_016879399.1:p.Arg1201His
XM_017023911.1:c.1787G>A	XP_016879400.1:p.Arg596His
NM_014714.4:c.3602G>A MANE Select	NP_055529.2:p.Arg1201His