Canonical Allele Identifier: CA7813537

Gene: IFT140

Linked Data

• dbSNP Id: rs766912676
• ExAC: 16:1575978 T / C
• gnomAD v2: 16-1575978-T-C
• gnomAD v3: 16-1525977-T-C
• gnomAD v4: 16-1525977-T-C
• MyVariant Identifiers: chr16:g.1575978T>C (hg19) ; chr16:g.1525977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525977T>C , CM000678.2:g.1525977T>C	GRCh38
NC_000016.9:g.1575978T>C , CM000678.1:g.1575978T>C	GRCh37
NC_000016.8:g.1515979T>C	NCBI36
NG_032783.1:g.91132A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2678A>G MANE Select	ENSP00000406012.2:p.Glu893Gly
ENST00000361339.9:c.260A>G	ENSP00000354895.5:p.Glu87Gly
ENST00000397417.6:c.*1116A>G	ENSP00000380562.2:n.*1116A>G
ENST00000426508.6:c.2678A>G	ENSP00000406012.2:p.Glu893Gly
ENST00000565298.5:n.1907A>G
ENST00000566818.1:n.393A>G
NM_014714.3:c.2678A>G	NP_055529.2:p.Glu893Gly
XM_006720989.2:c.2678A>G	XP_006721052.1:p.Glu893Gly
XM_006720990.2:c.2678A>G	XP_006721053.1:p.Glu893Gly
XM_006720991.2:c.2678A>G	XP_006721054.1:p.Glu893Gly
XM_006720992.2:c.311A>G	XP_006721055.1:p.Glu104Gly
XM_011522766.1:c.2432A>G	XP_011521068.1:p.Glu811Gly
XM_011522767.1:c.1703A>G	XP_011521069.1:p.Glu568Gly
XM_006720990.3:c.2678A>G	XP_006721053.1:p.Glu893Gly
XM_006720991.3:c.2678A>G	XP_006721054.1:p.Glu893Gly
XM_006720992.3:c.311A>G	XP_006721055.1:p.Glu104Gly
XM_011522766.3:c.2432A>G	XP_011521068.1:p.Glu811Gly
XM_011522767.2:c.1703A>G	XP_011521069.1:p.Glu568Gly
XM_017023910.1:c.2678A>G	XP_016879399.1:p.Glu893Gly
XM_017023911.1:c.863A>G	XP_016879400.1:p.Glu288Gly
NM_014714.4:c.2678A>G MANE Select	NP_055529.2:p.Glu893Gly