Canonical Allele Identifier: CA7814606

Gene: IFT140

Linked Data

• ClinVar Variation Id: 318207
• ClinVar RCV Id: RCV000301773 ; RCV002522825 ; RCV002494999
• dbSNP Id: rs555382397
• ExAC: 16:1639731 C / T
• gnomAD v2: 16-1639731-C-T
• gnomAD v3: 16-1589730-C-T
• gnomAD v4: 16-1589730-C-T
• MyVariant Identifiers: chr16:g.1639731C>T (hg19) ; chr16:g.1589730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1589730C>T , CM000678.2:g.1589730C>T	GRCh38
NC_000016.9:g.1639731C>T , CM000678.1:g.1639731C>T	GRCh37
NC_000016.8:g.1579732C>T	NCBI36
NG_032783.1:g.27379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.685G>A MANE Select	ENSP00000406012.2:p.Ala229Thr
ENST00000397417.6:c.329-5310G>A	ENSP00000380562.2:n.329-5310G>A
ENST00000426508.6:c.685G>A	ENSP00000406012.2:p.Ala229Thr
ENST00000439987.6:n.746G>A
NM_014714.3:c.685G>A	NP_055529.2:p.Ala229Thr
XM_005255725.3:c.685G>A	XP_005255782.1:p.Ala229Thr
XM_005255726.2:c.685G>A	XP_005255783.1:p.Ala229Thr
XM_006720989.2:c.685G>A	XP_006721052.1:p.Ala229Thr
XM_006720990.2:c.685G>A	XP_006721053.1:p.Ala229Thr
XM_006720991.2:c.685G>A	XP_006721054.1:p.Ala229Thr
XM_011522766.1:c.685G>A	XP_011521068.1:p.Ala229Thr
XM_011522768.1:c.685G>A	XP_011521070.1:p.Ala229Thr
XM_011522769.1:c.685G>A	XP_011521071.1:p.Ala229Thr
XM_011522771.1:c.685G>A	XP_011521073.1:p.Ala229Thr
XM_011522772.1:c.685G>A	XP_011521074.1:p.Ala229Thr
NR_135176.1:n.59+9145C>T
XM_005255725.5:c.685G>A	XP_005255782.1:p.Ala229Thr
XM_005255726.4:c.685G>A	XP_005255783.1:p.Ala229Thr
XM_006720990.3:c.685G>A	XP_006721053.1:p.Ala229Thr
XM_006720991.3:c.685G>A	XP_006721054.1:p.Ala229Thr
XM_011522766.3:c.685G>A	XP_011521068.1:p.Ala229Thr
XM_011522769.3:c.685G>A	XP_011521071.1:p.Ala229Thr
XM_011522771.3:c.685G>A	XP_011521073.1:p.Ala229Thr
XM_011522772.3:c.685G>A	XP_011521074.1:p.Ala229Thr
XM_017023910.1:c.685G>A	XP_016879399.1:p.Ala229Thr
XM_017023911.1:c.-1013G>A	XP_016879400.1:n.-1013G>A
NM_014714.4:c.685G>A MANE Select	NP_055529.2:p.Ala229Thr