Canonical Allele Identifier: CA394225229

Gene: IFT140

Linked Data

• dbSNP Id: rs1399948700
• gnomAD v2: 16-1573561-A-C
• gnomAD v4: 16-1523560-A-C
• MyVariant Identifiers: chr16:g.1573561A>C (hg19) ; chr16:g.1523560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523560A>C , CM000678.2:g.1523560A>C	GRCh38
NC_000016.9:g.1573561A>C , CM000678.1:g.1573561A>C	GRCh37
NC_000016.8:g.1513562A>C	NCBI36
NG_032783.1:g.93549T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3411T>G MANE Select	ENSP00000406012.2:p.Ser1137Arg
ENST00000361339.9:c.993T>G	ENSP00000354895.5:p.Ser331Arg
ENST00000397417.6:c.*1849T>G	ENSP00000380562.2:n.*1849T>G
ENST00000426508.6:c.3411T>G	ENSP00000406012.2:p.Ser1137Arg
ENST00000565298.5:n.3235T>G
NM_014714.3:c.3411T>G	NP_055529.2:p.Ser1137Arg
XM_006720989.2:c.3411T>G	XP_006721052.1:p.Ser1137Arg
XM_006720990.2:c.3411T>G	XP_006721053.1:p.Ser1137Arg
XM_006720991.2:c.3411T>G	XP_006721054.1:p.Ser1137Arg
XM_006720992.2:c.1044T>G	XP_006721055.1:p.Ser348Arg
XM_011522766.1:c.3165T>G	XP_011521068.1:p.Ser1055Arg
XM_011522767.1:c.2436T>G	XP_011521069.1:p.Ser812Arg
XM_006720990.3:c.3411T>G	XP_006721053.1:p.Ser1137Arg
XM_006720991.3:c.3411T>G	XP_006721054.1:p.Ser1137Arg
XM_006720992.3:c.1044T>G	XP_006721055.1:p.Ser348Arg
XM_011522766.3:c.3165T>G	XP_011521068.1:p.Ser1055Arg
XM_011522767.2:c.2436T>G	XP_011521069.1:p.Ser812Arg
XM_017023910.1:c.3411T>G	XP_016879399.1:p.Ser1137Arg
XM_017023911.1:c.1596T>G	XP_016879400.1:p.Ser532Arg
NM_014714.4:c.3411T>G MANE Select	NP_055529.2:p.Ser1137Arg