Canonical Allele Identifier: CA394215192

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1634414G>C (hg19) ; chr16:g.1584413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584413G>C , CM000678.2:g.1584413G>C	GRCh38
NC_000016.9:g.1634414G>C , CM000678.1:g.1634414G>C	GRCh37
NC_000016.8:g.1574415G>C	NCBI36
NG_032783.1:g.32696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1163C>G MANE Select	ENSP00000406012.2:p.Ser388Cys
ENST00000397417.6:c.336C>G	ENSP00000380562.2:p.Phe112Leu
ENST00000426508.6:c.1163C>G	ENSP00000406012.2:p.Ser388Cys
ENST00000439987.6:n.1224C>G
NM_014714.3:c.1163C>G	NP_055529.2:p.Ser388Cys
XM_005255725.3:c.1163C>G	XP_005255782.1:p.Ser388Cys
XM_005255726.2:c.1163C>G	XP_005255783.1:p.Ser388Cys
XM_006720989.2:c.1163C>G	XP_006721052.1:p.Ser388Cys
XM_006720990.2:c.1163C>G	XP_006721053.1:p.Ser388Cys
XM_006720991.2:c.1163C>G	XP_006721054.1:p.Ser388Cys
XM_011522766.1:c.1163C>G	XP_011521068.1:p.Ser388Cys
XM_011522767.1:c.188C>G	XP_011521069.1:p.Ser63Cys
XM_011522768.1:c.1163C>G	XP_011521070.1:p.Ser388Cys
XM_011522769.1:c.1163C>G	XP_011521071.1:p.Ser388Cys
XM_011522771.1:c.1163C>G	XP_011521073.1:p.Ser388Cys
XM_011522772.1:c.1163C>G	XP_011521074.1:p.Ser388Cys
NR_135176.1:n.59+3828G>C
XM_005255725.5:c.1163C>G	XP_005255782.1:p.Ser388Cys
XM_005255726.4:c.1163C>G	XP_005255783.1:p.Ser388Cys
XM_006720990.3:c.1163C>G	XP_006721053.1:p.Ser388Cys
XM_006720991.3:c.1163C>G	XP_006721054.1:p.Ser388Cys
XM_011522766.3:c.1163C>G	XP_011521068.1:p.Ser388Cys
XM_011522767.2:c.188C>G	XP_011521069.1:p.Ser63Cys
XM_011522769.3:c.1163C>G	XP_011521071.1:p.Ser388Cys
XM_011522771.3:c.1163C>G	XP_011521073.1:p.Ser388Cys
XM_011522772.3:c.1163C>G	XP_011521074.1:p.Ser388Cys
XM_017023910.1:c.1163C>G	XP_016879399.1:p.Ser388Cys
XM_017023911.1:c.-535C>G	XP_016879400.1:n.-535C>G
NM_014714.4:c.1163C>G MANE Select	NP_055529.2:p.Ser388Cys