Canonical Allele Identifier: CA394205848

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1616186G>C (hg19) ; chr16:g.1566185G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566185G>C , CM000678.2:g.1566185G>C	GRCh38
NC_000016.9:g.1616186G>C , CM000678.1:g.1616186G>C	GRCh37
NC_000016.8:g.1556187G>C	NCBI36
NG_032783.1:g.50924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1877C>G MANE Select	ENSP00000406012.2:p.Ser626Cys
ENST00000397417.6:c.*429C>G	ENSP00000380562.2:n.*429C>G
ENST00000426508.6:c.1877C>G	ENSP00000406012.2:p.Ser626Cys
ENST00000439987.6:n.1938C>G
ENST00000565298.5:n.565C>G
NM_014714.3:c.1877C>G	NP_055529.2:p.Ser626Cys
XM_005255725.3:c.1877C>G	XP_005255782.1:p.Ser626Cys
XM_005255726.2:c.1877C>G	XP_005255783.1:p.Ser626Cys
XM_006720989.2:c.1877C>G	XP_006721052.1:p.Ser626Cys
XM_006720990.2:c.1877C>G	XP_006721053.1:p.Ser626Cys
XM_006720991.2:c.1877C>G	XP_006721054.1:p.Ser626Cys
XM_011522766.1:c.1631C>G	XP_011521068.1:p.Ser544Cys
XM_011522767.1:c.902C>G	XP_011521069.1:p.Ser301Cys
XM_011522768.1:c.1877C>G	XP_011521070.1:p.Ser626Cys
XM_011522769.1:c.1877C>G	XP_011521071.1:p.Ser626Cys
XM_011522771.1:c.1877C>G	XP_011521073.1:p.Ser626Cys
XM_011522772.1:c.1877C>G	XP_011521074.1:p.Ser626Cys
XM_005255725.5:c.1877C>G	XP_005255782.1:p.Ser626Cys
XM_005255726.4:c.1877C>G	XP_005255783.1:p.Ser626Cys
XM_006720990.3:c.1877C>G	XP_006721053.1:p.Ser626Cys
XM_006720991.3:c.1877C>G	XP_006721054.1:p.Ser626Cys
XM_011522766.3:c.1631C>G	XP_011521068.1:p.Ser544Cys
XM_011522767.2:c.902C>G	XP_011521069.1:p.Ser301Cys
XM_011522769.3:c.1877C>G	XP_011521071.1:p.Ser626Cys
XM_011522771.3:c.1877C>G	XP_011521073.1:p.Ser626Cys
XM_011522772.3:c.1877C>G	XP_011521074.1:p.Ser626Cys
XM_017023910.1:c.1877C>G	XP_016879399.1:p.Ser626Cys
XM_017023911.1:c.62C>G	XP_016879400.1:p.Ser21Cys
NM_014714.4:c.1877C>G MANE Select	NP_055529.2:p.Ser626Cys