Canonical Allele Identifier: CA2575869208

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520868-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520868C>A , CM000678.2:g.1520868C>A	GRCh38
NC_000016.9:g.1570869C>A , CM000678.1:g.1570869C>A	GRCh37
NC_000016.8:g.1510870C>A	NCBI36
NG_032783.1:g.96241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3454-60G>T MANE Select	ENSP00000406012.2:n.3454-60G>T
ENST00000361339.9:c.1036-60G>T	ENSP00000354895.5:n.1036-60G>T
ENST00000397417.6:c.*1892-60G>T	ENSP00000380562.2:n.*1892-60G>T
ENST00000426508.6:c.3454-60G>T	ENSP00000406012.2:n.3454-60G>T
ENST00000565298.5:n.3278-60G>T
NM_014714.3:c.3454-60G>T	NP_055529.2:n.3454-60G>T
XM_006720989.2:c.3454-60G>T	XP_006721052.1:n.3454-60G>T
XM_006720990.2:c.3454-60G>T	XP_006721053.1:n.3454-60G>T
XM_006720991.2:c.3454-60G>T	XP_006721054.1:n.3454-60G>T
XM_006720992.2:c.1087-60G>T	XP_006721055.1:n.1087-60G>T
XM_011522766.1:c.3208-60G>T	XP_011521068.1:n.3208-60G>T
XM_011522767.1:c.2479-60G>T	XP_011521069.1:n.2479-60G>T
XM_006720990.3:c.3454-60G>T	XP_006721053.1:n.3454-60G>T
XM_006720991.3:c.3454-60G>T	XP_006721054.1:n.3454-60G>T
XM_006720992.3:c.1087-60G>T	XP_006721055.1:n.1087-60G>T
XM_011522766.3:c.3208-60G>T	XP_011521068.1:n.3208-60G>T
XM_011522767.2:c.2479-60G>T	XP_011521069.1:n.2479-60G>T
XM_017023910.1:c.3454-60G>T	XP_016879399.1:n.3454-60G>T
XM_017023911.1:c.1639-60G>T	XP_016879400.1:n.1639-60G>T
NM_014714.4:c.3454-60G>T MANE Select	NP_055529.2:n.3454-60G>T