Canonical Allele Identifier: CA394222457

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1561087C>A (hg19) ; chr16:g.1511086C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511086C>A , CM000678.2:g.1511086C>A	GRCh38
NC_000016.9:g.1561087C>A , CM000678.1:g.1561087C>A	GRCh37
NC_000016.8:g.1501088C>A	NCBI36
NG_032783.1:g.106023G>T
NG_050910.1:g.22743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4247G>T MANE Select	ENSP00000406012.2:p.Ser1416Ile
ENST00000361339.9:c.1829G>T	ENSP00000354895.5:p.Ser610Ile
ENST00000397417.6:c.*2685G>T	ENSP00000380562.2:n.*2685G>T
ENST00000426508.6:c.4247G>T	ENSP00000406012.2:p.Ser1416Ile
ENST00000565298.5:n.4071G>T
NM_014714.3:c.4247G>T	NP_055529.2:p.Ser1416Ile
XM_006720989.2:c.4247G>T	XP_006721052.1:p.Ser1416Ile
XM_006720990.2:c.4247G>T	XP_006721053.1:p.Ser1416Ile
XM_006720991.2:c.4247G>T	XP_006721054.1:p.Ser1416Ile
XM_006720992.2:c.1880G>T	XP_006721055.1:p.Ser627Ile
XM_011522766.1:c.4001G>T	XP_011521068.1:p.Ser1334Ile
XM_011522767.1:c.3272G>T	XP_011521069.1:p.Ser1091Ile
XM_006720990.3:c.4247G>T	XP_006721053.1:p.Ser1416Ile
XM_006720991.3:c.4247G>T	XP_006721054.1:p.Ser1416Ile
XM_006720992.3:c.1880G>T	XP_006721055.1:p.Ser627Ile
XM_011522766.3:c.4001G>T	XP_011521068.1:p.Ser1334Ile
XM_011522767.2:c.3272G>T	XP_011521069.1:p.Ser1091Ile
XM_017023910.1:c.4247G>T	XP_016879399.1:p.Ser1416Ile
XM_017023911.1:c.2432G>T	XP_016879400.1:p.Ser811Ile
NM_014714.4:c.4247G>T MANE Select	NP_055529.2:p.Ser1416Ile