Canonical Allele Identifier: CA394214506

Gene: IFT140

Linked Data

• ClinVar Variation Id: 523184
• ClinVar RCV Id: RCV000626468
• dbSNP Id: rs1555491448
• gnomAD v3: 16-1584257-A-G
• gnomAD v4: 16-1584257-A-G
• MyVariant Identifiers: chr16:g.1634258A>G (hg19) ; chr16:g.1584257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584257A>G , CM000678.2:g.1584257A>G	GRCh38
NC_000016.9:g.1634258A>G , CM000678.1:g.1634258A>G	GRCh37
NC_000016.8:g.1574259A>G	NCBI36
NG_032783.1:g.32852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1319T>C MANE Select	ENSP00000406012.2:p.Leu440Pro
ENST00000397417.6:c.492T>C	ENSP00000380562.2:p.Pro164=
ENST00000426508.6:c.1319T>C	ENSP00000406012.2:p.Leu440Pro
ENST00000439987.6:n.1380T>C
ENST00000565298.5:n.7T>C
NM_014714.3:c.1319T>C	NP_055529.2:p.Leu440Pro
XM_005255725.3:c.1319T>C	XP_005255782.1:p.Leu440Pro
XM_005255726.2:c.1319T>C	XP_005255783.1:p.Leu440Pro
XM_006720989.2:c.1319T>C	XP_006721052.1:p.Leu440Pro
XM_006720990.2:c.1319T>C	XP_006721053.1:p.Leu440Pro
XM_006720991.2:c.1319T>C	XP_006721054.1:p.Leu440Pro
XM_011522766.1:c.1319T>C	XP_011521068.1:p.Leu440Pro
XM_011522767.1:c.344T>C	XP_011521069.1:p.Leu115Pro
XM_011522768.1:c.1319T>C	XP_011521070.1:p.Leu440Pro
XM_011522769.1:c.1319T>C	XP_011521071.1:p.Leu440Pro
XM_011522771.1:c.1319T>C	XP_011521073.1:p.Leu440Pro
XM_011522772.1:c.1319T>C	XP_011521074.1:p.Leu440Pro
NR_135176.1:n.59+3672A>G
XM_005255725.5:c.1319T>C	XP_005255782.1:p.Leu440Pro
XM_005255726.4:c.1319T>C	XP_005255783.1:p.Leu440Pro
XM_006720990.3:c.1319T>C	XP_006721053.1:p.Leu440Pro
XM_006720991.3:c.1319T>C	XP_006721054.1:p.Leu440Pro
XM_011522766.3:c.1319T>C	XP_011521068.1:p.Leu440Pro
XM_011522767.2:c.344T>C	XP_011521069.1:p.Leu115Pro
XM_011522769.3:c.1319T>C	XP_011521071.1:p.Leu440Pro
XM_011522771.3:c.1319T>C	XP_011521073.1:p.Leu440Pro
XM_011522772.3:c.1319T>C	XP_011521074.1:p.Leu440Pro
XM_017023910.1:c.1319T>C	XP_016879399.1:p.Leu440Pro
XM_017023911.1:c.-379T>C	XP_016879400.1:n.-379T>C
NM_014714.4:c.1319T>C MANE Select	NP_055529.2:p.Leu440Pro