Canonical Allele Identifier: CA394224824

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520666-C-G
• MyVariant Identifiers: chr16:g.1570667C>G (hg19) ; chr16:g.1520666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520666C>G , CM000678.2:g.1520666C>G	GRCh38
NC_000016.9:g.1570667C>G , CM000678.1:g.1570667C>G	GRCh37
NC_000016.8:g.1510668C>G	NCBI36
NG_032783.1:g.96443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3596G>C MANE Select	ENSP00000406012.2:p.Cys1199Ser
ENST00000361339.9:c.1178G>C	ENSP00000354895.5:p.Cys393Ser
ENST00000397417.6:c.*2034G>C	ENSP00000380562.2:n.*2034G>C
ENST00000426508.6:c.3596G>C	ENSP00000406012.2:p.Cys1199Ser
ENST00000565298.5:n.3420G>C
NM_014714.3:c.3596G>C	NP_055529.2:p.Cys1199Ser
XM_006720989.2:c.3596G>C	XP_006721052.1:p.Cys1199Ser
XM_006720990.2:c.3596G>C	XP_006721053.1:p.Cys1199Ser
XM_006720991.2:c.3596G>C	XP_006721054.1:p.Cys1199Ser
XM_006720992.2:c.1229G>C	XP_006721055.1:p.Cys410Ser
XM_011522766.1:c.3350G>C	XP_011521068.1:p.Cys1117Ser
XM_011522767.1:c.2621G>C	XP_011521069.1:p.Cys874Ser
XM_006720990.3:c.3596G>C	XP_006721053.1:p.Cys1199Ser
XM_006720991.3:c.3596G>C	XP_006721054.1:p.Cys1199Ser
XM_006720992.3:c.1229G>C	XP_006721055.1:p.Cys410Ser
XM_011522766.3:c.3350G>C	XP_011521068.1:p.Cys1117Ser
XM_011522767.2:c.2621G>C	XP_011521069.1:p.Cys874Ser
XM_017023910.1:c.3596G>C	XP_016879399.1:p.Cys1199Ser
XM_017023911.1:c.1781G>C	XP_016879400.1:p.Cys594Ser
NM_014714.4:c.3596G>C MANE Select	NP_055529.2:p.Cys1199Ser