Canonical Allele Identifier: CA2631006297

Gene: IFT140

Linked Data

• gnomAD v4: 16-1510814-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510814C>G , CM000678.2:g.1510814C>G	GRCh38
NC_000016.9:g.1560815C>G , CM000678.1:g.1560815C>G	GRCh37
NC_000016.8:g.1500816C>G	NCBI36
NG_032783.1:g.106295G>C
NG_050910.1:g.22471C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.*130G>C MANE Select	ENSP00000406012.2:n.*130G>C
ENST00000361339.9:c.*130G>C	ENSP00000354895.5:n.*130G>C
ENST00000397417.6:c.*2957G>C	ENSP00000380562.2:n.*2957G>C
ENST00000426508.6:c.*130G>C	ENSP00000406012.2:n.*130G>C
ENST00000565298.5:n.4343G>C
NM_014714.3:c.*130G>C	NP_055529.2:n.*130G>C
XM_006720989.2:c.*130G>C	XP_006721052.1:n.*130G>C
XM_006720990.2:c.*130G>C	XP_006721053.1:n.*130G>C
XM_006720991.2:c.*130G>C	XP_006721054.1:n.*130G>C
XM_006720992.2:c.*130G>C	XP_006721055.1:n.*130G>C
XM_011522766.1:c.*130G>C	XP_011521068.1:n.*130G>C
XM_011522767.1:c.*130G>C	XP_011521069.1:n.*130G>C
XM_006720990.3:c.*130G>C	XP_006721053.1:n.*130G>C
XM_006720991.3:c.*130G>C	XP_006721054.1:n.*130G>C
XM_006720992.3:c.*130G>C	XP_006721055.1:n.*130G>C
XM_011522766.3:c.*130G>C	XP_011521068.1:n.*130G>C
XM_011522767.2:c.*130G>C	XP_011521069.1:n.*130G>C
XM_017023910.1:c.*130G>C	XP_016879399.1:n.*130G>C
XM_017023911.1:c.*130G>C	XP_016879400.1:n.*130G>C
NM_014714.4:c.*130G>C MANE Select	NP_055529.2:n.*130G>C