Canonical Allele Identifier: CA394227090

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1575889A>G (hg19) ; chr16:g.1525888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525888A>G , CM000678.2:g.1525888A>G	GRCh38
NC_000016.9:g.1575889A>G , CM000678.1:g.1575889A>G	GRCh37
NC_000016.8:g.1515890A>G	NCBI36
NG_032783.1:g.91221T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2767T>C MANE Select	ENSP00000406012.2:p.Tyr923His
ENST00000361339.9:c.349T>C	ENSP00000354895.5:p.Tyr117His
ENST00000397417.6:c.*1205T>C	ENSP00000380562.2:n.*1205T>C
ENST00000426508.6:c.2767T>C	ENSP00000406012.2:p.Tyr923His
ENST00000565298.5:n.1996T>C
ENST00000566818.1:n.482T>C
NM_014714.3:c.2767T>C	NP_055529.2:p.Tyr923His
XM_006720989.2:c.2767T>C	XP_006721052.1:p.Tyr923His
XM_006720990.2:c.2767T>C	XP_006721053.1:p.Tyr923His
XM_006720991.2:c.2767T>C	XP_006721054.1:p.Tyr923His
XM_006720992.2:c.400T>C	XP_006721055.1:p.Tyr134His
XM_011522766.1:c.2521T>C	XP_011521068.1:p.Tyr841His
XM_011522767.1:c.1792T>C	XP_011521069.1:p.Tyr598His
XM_006720990.3:c.2767T>C	XP_006721053.1:p.Tyr923His
XM_006720991.3:c.2767T>C	XP_006721054.1:p.Tyr923His
XM_006720992.3:c.400T>C	XP_006721055.1:p.Tyr134His
XM_011522766.3:c.2521T>C	XP_011521068.1:p.Tyr841His
XM_011522767.2:c.1792T>C	XP_011521069.1:p.Tyr598His
XM_017023910.1:c.2767T>C	XP_016879399.1:p.Tyr923His
XM_017023911.1:c.952T>C	XP_016879400.1:p.Tyr318His
NM_014714.4:c.2767T>C MANE Select	NP_055529.2:p.Tyr923His