Canonical Allele Identifier: CA492931817

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2093062
• ClinVar RCV Id: RCV003018523
• dbSNP Id: rs1446054125
• gnomAD v3: 16-1520638-G-A
• gnomAD v4: 16-1520638-G-A
• MyVariant Identifiers: chr16:g.1570639G>A (hg19) ; chr16:g.1520638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520638G>A , CM000678.2:g.1520638G>A	GRCh38
NC_000016.9:g.1570639G>A , CM000678.1:g.1570639G>A	GRCh37
NC_000016.8:g.1510640G>A	NCBI36
NG_032783.1:g.96471C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3624C>T MANE Select	ENSP00000406012.2:p.Ala1208=
ENST00000361339.9:c.1206C>T	ENSP00000354895.5:p.Ala402=
ENST00000397417.6:c.*2062C>T	ENSP00000380562.2:n.*2062C>T
ENST00000426508.6:c.3624C>T	ENSP00000406012.2:p.Ala1208=
ENST00000565298.5:n.3448C>T
NM_014714.3:c.3624C>T	NP_055529.2:p.Ala1208=
XM_006720989.2:c.3624C>T	XP_006721052.1:p.Ala1208=
XM_006720990.2:c.3624C>T	XP_006721053.1:p.Ala1208=
XM_006720991.2:c.3624C>T	XP_006721054.1:p.Ala1208=
XM_006720992.2:c.1257C>T	XP_006721055.1:p.Ala419=
XM_011522766.1:c.3378C>T	XP_011521068.1:p.Ala1126=
XM_011522767.1:c.2649C>T	XP_011521069.1:p.Ala883=
XM_006720990.3:c.3624C>T	XP_006721053.1:p.Ala1208=
XM_006720991.3:c.3624C>T	XP_006721054.1:p.Ala1208=
XM_006720992.3:c.1257C>T	XP_006721055.1:p.Ala419=
XM_011522766.3:c.3378C>T	XP_011521068.1:p.Ala1126=
XM_011522767.2:c.2649C>T	XP_011521069.1:p.Ala883=
XM_017023910.1:c.3624C>T	XP_016879399.1:p.Ala1208=
XM_017023911.1:c.1809C>T	XP_016879400.1:p.Ala603=
NM_014714.4:c.3624C>T MANE Select	NP_055529.2:p.Ala1208=