Canonical Allele Identifier: CA7812832

Gene: IFT140

Linked Data

• ClinVar Variation Id: 446311
• ClinVar RCV Id: RCV000515594
• dbSNP Id: rs559371453
• ExAC: 16:1561138 A / G
• gnomAD v2: 16-1561138-A-G
• gnomAD v3: 16-1511137-A-G
• gnomAD v4: 16-1511137-A-G
• MyVariant Identifiers: chr16:g.1561138A>G (hg19) ; chr16:g.1511137A>G (hg38)
• PubMed: PMID:26216056

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511137A>G , CM000678.2:g.1511137A>G	GRCh38
NC_000016.9:g.1561138A>G , CM000678.1:g.1561138A>G	GRCh37
NC_000016.8:g.1501139A>G	NCBI36
NG_032783.1:g.105972T>C
NG_050910.1:g.22794A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4196T>C MANE Select	ENSP00000406012.2:p.Leu1399Pro
ENST00000361339.9:c.1778T>C	ENSP00000354895.5:p.Leu593Pro
ENST00000397417.6:c.*2634T>C	ENSP00000380562.2:n.*2634T>C
ENST00000426508.6:c.4196T>C	ENSP00000406012.2:p.Leu1399Pro
ENST00000565298.5:n.4020T>C
NM_014714.3:c.4196T>C	NP_055529.2:p.Leu1399Pro
XM_006720989.2:c.4196T>C	XP_006721052.1:p.Leu1399Pro
XM_006720990.2:c.4196T>C	XP_006721053.1:p.Leu1399Pro
XM_006720991.2:c.4196T>C	XP_006721054.1:p.Leu1399Pro
XM_006720992.2:c.1829T>C	XP_006721055.1:p.Leu610Pro
XM_011522766.1:c.3950T>C	XP_011521068.1:p.Leu1317Pro
XM_011522767.1:c.3221T>C	XP_011521069.1:p.Leu1074Pro
XM_006720990.3:c.4196T>C	XP_006721053.1:p.Leu1399Pro
XM_006720991.3:c.4196T>C	XP_006721054.1:p.Leu1399Pro
XM_006720992.3:c.1829T>C	XP_006721055.1:p.Leu610Pro
XM_011522766.3:c.3950T>C	XP_011521068.1:p.Leu1317Pro
XM_011522767.2:c.3221T>C	XP_011521069.1:p.Leu1074Pro
XM_017023910.1:c.4196T>C	XP_016879399.1:p.Leu1399Pro
XM_017023911.1:c.2381T>C	XP_016879400.1:p.Leu794Pro
NM_014714.4:c.4196T>C MANE Select	NP_055529.2:p.Leu1399Pro