Canonical Allele Identifier: CA394227410

Gene: IFT140

Linked Data

• dbSNP Id: rs1318596942
• MyVariant Identifiers: chr16:g.1575975T>G (hg19) ; chr16:g.1525974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525974T>G , CM000678.2:g.1525974T>G	GRCh38
NC_000016.9:g.1575975T>G , CM000678.1:g.1575975T>G	GRCh37
NC_000016.8:g.1515976T>G	NCBI36
NG_032783.1:g.91135A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2681A>C MANE Select	ENSP00000406012.2:p.His894Pro
ENST00000361339.9:c.263A>C	ENSP00000354895.5:p.His88Pro
ENST00000397417.6:c.*1119A>C	ENSP00000380562.2:n.*1119A>C
ENST00000426508.6:c.2681A>C	ENSP00000406012.2:p.His894Pro
ENST00000565298.5:n.1910A>C
ENST00000566818.1:n.396A>C
NM_014714.3:c.2681A>C	NP_055529.2:p.His894Pro
XM_006720989.2:c.2681A>C	XP_006721052.1:p.His894Pro
XM_006720990.2:c.2681A>C	XP_006721053.1:p.His894Pro
XM_006720991.2:c.2681A>C	XP_006721054.1:p.His894Pro
XM_006720992.2:c.314A>C	XP_006721055.1:p.His105Pro
XM_011522766.1:c.2435A>C	XP_011521068.1:p.His812Pro
XM_011522767.1:c.1706A>C	XP_011521069.1:p.His569Pro
XM_006720990.3:c.2681A>C	XP_006721053.1:p.His894Pro
XM_006720991.3:c.2681A>C	XP_006721054.1:p.His894Pro
XM_006720992.3:c.314A>C	XP_006721055.1:p.His105Pro
XM_011522766.3:c.2435A>C	XP_011521068.1:p.His812Pro
XM_011522767.2:c.1706A>C	XP_011521069.1:p.His569Pro
XM_017023910.1:c.2681A>C	XP_016879399.1:p.His894Pro
XM_017023911.1:c.866A>C	XP_016879400.1:p.His289Pro
NM_014714.4:c.2681A>C MANE Select	NP_055529.2:p.His894Pro