Canonical Allele Identifier: CA7812823

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1124857
• ClinVar RCV Id: RCV001456382 ; RCV002488261 ; RCV003955998
• dbSNP Id: rs143920103
• ExAC: 16:1561107 G / C
• gnomAD v2: 16-1561107-G-C
• gnomAD v3: 16-1511106-G-C
• gnomAD v4: 16-1511106-G-C
• MyVariant Identifiers: chr16:g.1561107G>C (hg19) ; chr16:g.1511106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511106G>C , CM000678.2:g.1511106G>C	GRCh38
NC_000016.9:g.1561107G>C , CM000678.1:g.1561107G>C	GRCh37
NC_000016.8:g.1501108G>C	NCBI36
NG_032783.1:g.106003C>G
NG_050910.1:g.22763G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4227C>G MANE Select	ENSP00000406012.2:p.Ala1409=
ENST00000361339.9:c.1809C>G	ENSP00000354895.5:p.Ala603=
ENST00000397417.6:c.*2665C>G	ENSP00000380562.2:n.*2665C>G
ENST00000426508.6:c.4227C>G	ENSP00000406012.2:p.Ala1409=
ENST00000565298.5:n.4051C>G
NM_014714.3:c.4227C>G	NP_055529.2:p.Ala1409=
XM_006720989.2:c.4227C>G	XP_006721052.1:p.Ala1409=
XM_006720990.2:c.4227C>G	XP_006721053.1:p.Ala1409=
XM_006720991.2:c.4227C>G	XP_006721054.1:p.Ala1409=
XM_006720992.2:c.1860C>G	XP_006721055.1:p.Ala620=
XM_011522766.1:c.3981C>G	XP_011521068.1:p.Ala1327=
XM_011522767.1:c.3252C>G	XP_011521069.1:p.Ala1084=
XM_006720990.3:c.4227C>G	XP_006721053.1:p.Ala1409=
XM_006720991.3:c.4227C>G	XP_006721054.1:p.Ala1409=
XM_006720992.3:c.1860C>G	XP_006721055.1:p.Ala620=
XM_011522766.3:c.3981C>G	XP_011521068.1:p.Ala1327=
XM_011522767.2:c.3252C>G	XP_011521069.1:p.Ala1084=
XM_017023910.1:c.4227C>G	XP_016879399.1:p.Ala1409=
XM_017023911.1:c.2412C>G	XP_016879400.1:p.Ala804=
NM_014714.4:c.4227C>G MANE Select	NP_055529.2:p.Ala1409=