Canonical Allele Identifier: CA394222483

Gene: IFT140

Linked Data

• ClinVar Variation Id: 3028324
• ClinVar RCV Id: RCV003889694
• dbSNP Id: rs1402963385
• gnomAD v3: 16-1511098-G-A
• gnomAD v4: 16-1511098-G-A
• MyVariant Identifiers: chr16:g.1561099G>A (hg19) ; chr16:g.1511098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511098G>A , CM000678.2:g.1511098G>A	GRCh38
NC_000016.9:g.1561099G>A , CM000678.1:g.1561099G>A	GRCh37
NC_000016.8:g.1501100G>A	NCBI36
NG_032783.1:g.106011C>T
NG_050910.1:g.22755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4235C>T MANE Select	ENSP00000406012.2:p.Ser1412Phe
ENST00000361339.9:c.1817C>T	ENSP00000354895.5:p.Ser606Phe
ENST00000397417.6:c.*2673C>T	ENSP00000380562.2:n.*2673C>T
ENST00000426508.6:c.4235C>T	ENSP00000406012.2:p.Ser1412Phe
ENST00000565298.5:n.4059C>T
NM_014714.3:c.4235C>T	NP_055529.2:p.Ser1412Phe
XM_006720989.2:c.4235C>T	XP_006721052.1:p.Ser1412Phe
XM_006720990.2:c.4235C>T	XP_006721053.1:p.Ser1412Phe
XM_006720991.2:c.4235C>T	XP_006721054.1:p.Ser1412Phe
XM_006720992.2:c.1868C>T	XP_006721055.1:p.Ser623Phe
XM_011522766.1:c.3989C>T	XP_011521068.1:p.Ser1330Phe
XM_011522767.1:c.3260C>T	XP_011521069.1:p.Ser1087Phe
XM_006720990.3:c.4235C>T	XP_006721053.1:p.Ser1412Phe
XM_006720991.3:c.4235C>T	XP_006721054.1:p.Ser1412Phe
XM_006720992.3:c.1868C>T	XP_006721055.1:p.Ser623Phe
XM_011522766.3:c.3989C>T	XP_011521068.1:p.Ser1330Phe
XM_011522767.2:c.3260C>T	XP_011521069.1:p.Ser1087Phe
XM_017023910.1:c.4235C>T	XP_016879399.1:p.Ser1412Phe
XM_017023911.1:c.2420C>T	XP_016879400.1:p.Ser807Phe
NM_014714.4:c.4235C>T MANE Select	NP_055529.2:p.Ser1412Phe