Canonical Allele Identifier: CA7812959

Gene: IFT140

Linked Data

• ClinVar Variation Id: 317993
• ClinVar RCV Id: RCV000271646
• dbSNP Id: rs61745103
• ExAC: 16:1569932 C / T
• gnomAD v2: 16-1569932-C-T
• gnomAD v3: 16-1519931-C-T
• gnomAD v4: 16-1519931-C-T
• MyVariant Identifiers: chr16:g.1569932C>T (hg19) ; chr16:g.1519931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519931C>T , CM000678.2:g.1519931C>T	GRCh38
NC_000016.9:g.1569932C>T , CM000678.1:g.1569932C>T	GRCh37
NC_000016.8:g.1509933C>T	NCBI36
NG_032783.1:g.97178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3990G>A MANE Select	ENSP00000406012.2:p.Ala1330=
ENST00000361339.9:c.1572G>A	ENSP00000354895.5:p.Ala524=
ENST00000397417.6:c.*2428G>A	ENSP00000380562.2:n.*2428G>A
ENST00000426508.6:c.3990G>A	ENSP00000406012.2:p.Ala1330=
ENST00000565298.5:n.3814G>A
ENST00000568837.1:c.108G>A	ENSP00000458439.1:p.Ala36=
NM_014714.3:c.3990G>A	NP_055529.2:p.Ala1330=
XM_006720989.2:c.3990G>A	XP_006721052.1:p.Ala1330=
XM_006720990.2:c.3990G>A	XP_006721053.1:p.Ala1330=
XM_006720991.2:c.3990G>A	XP_006721054.1:p.Ala1330=
XM_006720992.2:c.1623G>A	XP_006721055.1:p.Ala541=
XM_011522766.1:c.3744G>A	XP_011521068.1:p.Ala1248=
XM_011522767.1:c.3015G>A	XP_011521069.1:p.Ala1005=
XM_006720990.3:c.3990G>A	XP_006721053.1:p.Ala1330=
XM_006720991.3:c.3990G>A	XP_006721054.1:p.Ala1330=
XM_006720992.3:c.1623G>A	XP_006721055.1:p.Ala541=
XM_011522766.3:c.3744G>A	XP_011521068.1:p.Ala1248=
XM_011522767.2:c.3015G>A	XP_011521069.1:p.Ala1005=
XM_017023910.1:c.3990G>A	XP_016879399.1:p.Ala1330=
XM_017023911.1:c.2175G>A	XP_016879400.1:p.Ala725=
NM_014714.4:c.3990G>A MANE Select	NP_055529.2:p.Ala1330=