Canonical Allele Identifier: CA394222498

Gene: IFT140

Linked Data

• dbSNP Id: rs2040130424
• gnomAD v3: 16-1511104-T-C
• gnomAD v4: 16-1511104-T-C
• MyVariant Identifiers: chr16:g.1561105T>C (hg19) ; chr16:g.1511104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511104T>C , CM000678.2:g.1511104T>C	GRCh38
NC_000016.9:g.1561105T>C , CM000678.1:g.1561105T>C	GRCh37
NC_000016.8:g.1501106T>C	NCBI36
NG_032783.1:g.106005A>G
NG_050910.1:g.22761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4229A>G MANE Select	ENSP00000406012.2:p.Asn1410Ser
ENST00000361339.9:c.1811A>G	ENSP00000354895.5:p.Asn604Ser
ENST00000397417.6:c.*2667A>G	ENSP00000380562.2:n.*2667A>G
ENST00000426508.6:c.4229A>G	ENSP00000406012.2:p.Asn1410Ser
ENST00000565298.5:n.4053A>G
NM_014714.3:c.4229A>G	NP_055529.2:p.Asn1410Ser
XM_006720989.2:c.4229A>G	XP_006721052.1:p.Asn1410Ser
XM_006720990.2:c.4229A>G	XP_006721053.1:p.Asn1410Ser
XM_006720991.2:c.4229A>G	XP_006721054.1:p.Asn1410Ser
XM_006720992.2:c.1862A>G	XP_006721055.1:p.Asn621Ser
XM_011522766.1:c.3983A>G	XP_011521068.1:p.Asn1328Ser
XM_011522767.1:c.3254A>G	XP_011521069.1:p.Asn1085Ser
XM_006720990.3:c.4229A>G	XP_006721053.1:p.Asn1410Ser
XM_006720991.3:c.4229A>G	XP_006721054.1:p.Asn1410Ser
XM_006720992.3:c.1862A>G	XP_006721055.1:p.Asn621Ser
XM_011522766.3:c.3983A>G	XP_011521068.1:p.Asn1328Ser
XM_011522767.2:c.3254A>G	XP_011521069.1:p.Asn1085Ser
XM_017023910.1:c.4229A>G	XP_016879399.1:p.Asn1410Ser
XM_017023911.1:c.2414A>G	XP_016879400.1:p.Asn805Ser
NM_014714.4:c.4229A>G MANE Select	NP_055529.2:p.Asn1410Ser