Canonical Allele Identifier: CA394227406

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1575975T>A (hg19) ; chr16:g.1525974T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2681A>T MANE Select	ENSP00000406012.2:p.His894Leu
ENST00000361339.9:c.263A>T	ENSP00000354895.5:p.His88Leu
ENST00000397417.6:c.*1119A>T	ENSP00000380562.2:n.*1119A>T
ENST00000426508.6:c.2681A>T	ENSP00000406012.2:p.His894Leu
ENST00000565298.5:n.1910A>T
ENST00000566818.1:n.396A>T
NM_014714.3:c.2681A>T	NP_055529.2:p.His894Leu
XM_006720989.2:c.2681A>T	XP_006721052.1:p.His894Leu
XM_006720990.2:c.2681A>T	XP_006721053.1:p.His894Leu
XM_006720991.2:c.2681A>T	XP_006721054.1:p.His894Leu
XM_006720992.2:c.314A>T	XP_006721055.1:p.His105Leu
XM_011522766.1:c.2435A>T	XP_011521068.1:p.His812Leu
XM_011522767.1:c.1706A>T	XP_011521069.1:p.His569Leu
XM_006720990.3:c.2681A>T	XP_006721053.1:p.His894Leu
XM_006720991.3:c.2681A>T	XP_006721054.1:p.His894Leu
XM_006720992.3:c.314A>T	XP_006721055.1:p.His105Leu
XM_011522766.3:c.2435A>T	XP_011521068.1:p.His812Leu
XM_011522767.2:c.1706A>T	XP_011521069.1:p.His569Leu
XM_017023910.1:c.2681A>T	XP_016879399.1:p.His894Leu
XM_017023911.1:c.866A>T	XP_016879400.1:p.His289Leu
NM_014714.4:c.2681A>T MANE Select	NP_055529.2:p.His894Leu