Canonical Allele Identifier: CA394223980

Gene: IFT140

Linked Data

• dbSNP Id: rs1185797524
• gnomAD v2: 16-1569942-G-T
• gnomAD v4: 16-1519941-G-T
• MyVariant Identifiers: chr16:g.1569942G>T (hg19) ; chr16:g.1519941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519941G>T , CM000678.2:g.1519941G>T	GRCh38
NC_000016.9:g.1569942G>T , CM000678.1:g.1569942G>T	GRCh37
NC_000016.8:g.1509943G>T	NCBI36
NG_032783.1:g.97168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3980C>A MANE Select	ENSP00000406012.2:p.Thr1327Asn
ENST00000361339.9:c.1562C>A	ENSP00000354895.5:p.Thr521Asn
ENST00000397417.6:c.*2418C>A	ENSP00000380562.2:n.*2418C>A
ENST00000426508.6:c.3980C>A	ENSP00000406012.2:p.Thr1327Asn
ENST00000565298.5:n.3804C>A
ENST00000568837.1:c.98C>A	ENSP00000458439.1:p.Thr33Asn
NM_014714.3:c.3980C>A	NP_055529.2:p.Thr1327Asn
XM_006720989.2:c.3980C>A	XP_006721052.1:p.Thr1327Asn
XM_006720990.2:c.3980C>A	XP_006721053.1:p.Thr1327Asn
XM_006720991.2:c.3980C>A	XP_006721054.1:p.Thr1327Asn
XM_006720992.2:c.1613C>A	XP_006721055.1:p.Thr538Asn
XM_011522766.1:c.3734C>A	XP_011521068.1:p.Thr1245Asn
XM_011522767.1:c.3005C>A	XP_011521069.1:p.Thr1002Asn
XM_006720990.3:c.3980C>A	XP_006721053.1:p.Thr1327Asn
XM_006720991.3:c.3980C>A	XP_006721054.1:p.Thr1327Asn
XM_006720992.3:c.1613C>A	XP_006721055.1:p.Thr538Asn
XM_011522766.3:c.3734C>A	XP_011521068.1:p.Thr1245Asn
XM_011522767.2:c.3005C>A	XP_011521069.1:p.Thr1002Asn
XM_017023910.1:c.3980C>A	XP_016879399.1:p.Thr1327Asn
XM_017023911.1:c.2165C>A	XP_016879400.1:p.Thr722Asn
NM_014714.4:c.3980C>A MANE Select	NP_055529.2:p.Thr1327Asn