Canonical Allele Identifier: CA394223972

Gene: IFT140

Linked Data

• gnomAD v4: 16-1519937-C-G
• MyVariant Identifiers: chr16:g.1569938C>G (hg19) ; chr16:g.1519937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519937C>G , CM000678.2:g.1519937C>G	GRCh38
NC_000016.9:g.1569938C>G , CM000678.1:g.1569938C>G	GRCh37
NC_000016.8:g.1509939C>G	NCBI36
NG_032783.1:g.97172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3984G>C MANE Select	ENSP00000406012.2:p.Arg1328Ser
ENST00000361339.9:c.1566G>C	ENSP00000354895.5:p.Arg522Ser
ENST00000397417.6:c.*2422G>C	ENSP00000380562.2:n.*2422G>C
ENST00000426508.6:c.3984G>C	ENSP00000406012.2:p.Arg1328Ser
ENST00000565298.5:n.3808G>C
ENST00000568837.1:c.102G>C	ENSP00000458439.1:p.Arg34Ser
NM_014714.3:c.3984G>C	NP_055529.2:p.Arg1328Ser
XM_006720989.2:c.3984G>C	XP_006721052.1:p.Arg1328Ser
XM_006720990.2:c.3984G>C	XP_006721053.1:p.Arg1328Ser
XM_006720991.2:c.3984G>C	XP_006721054.1:p.Arg1328Ser
XM_006720992.2:c.1617G>C	XP_006721055.1:p.Arg539Ser
XM_011522766.1:c.3738G>C	XP_011521068.1:p.Arg1246Ser
XM_011522767.1:c.3009G>C	XP_011521069.1:p.Arg1003Ser
XM_006720990.3:c.3984G>C	XP_006721053.1:p.Arg1328Ser
XM_006720991.3:c.3984G>C	XP_006721054.1:p.Arg1328Ser
XM_006720992.3:c.1617G>C	XP_006721055.1:p.Arg539Ser
XM_011522766.3:c.3738G>C	XP_011521068.1:p.Arg1246Ser
XM_011522767.2:c.3009G>C	XP_011521069.1:p.Arg1003Ser
XM_017023910.1:c.3984G>C	XP_016879399.1:p.Arg1328Ser
XM_017023911.1:c.2169G>C	XP_016879400.1:p.Arg723Ser
NM_014714.4:c.3984G>C MANE Select	NP_055529.2:p.Arg1328Ser