Canonical Allele Identifier: CA2805557613

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510620T>C , CM000678.2:g.1510620T>C	GRCh38
NC_000016.9:g.1560621T>C , CM000678.1:g.1560621T>C	GRCh37
NC_000016.8:g.1500622T>C	NCBI36
NG_032783.1:g.106489A>G
NG_050910.1:g.22277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*324A>G MANE Select	ENSP00000406012.2:n.*324A>G
ENST00000361339.9:c.*324A>G	ENSP00000354895.5:n.*324A>G
ENST00000397417.6:c.*3151A>G	ENSP00000380562.2:n.*3151A>G
ENST00000426508.6:c.*324A>G	ENSP00000406012.2:n.*324A>G
ENST00000565298.5:n.4537A>G
NM_014714.3:c.*324A>G	NP_055529.2:n.*324A>G
XM_006720989.2:c.*324A>G	XP_006721052.1:n.*324A>G
XM_006720990.2:c.*324A>G	XP_006721053.1:n.*324A>G
XM_006720991.2:c.*324A>G	XP_006721054.1:n.*324A>G
XM_006720992.2:c.*324A>G	XP_006721055.1:n.*324A>G
XM_011522766.1:c.*324A>G	XP_011521068.1:n.*324A>G
XM_011522767.1:c.*324A>G	XP_011521069.1:n.*324A>G
XM_006720990.3:c.*324A>G	XP_006721053.1:n.*324A>G
XM_006720991.3:c.*324A>G	XP_006721054.1:n.*324A>G
XM_006720992.3:c.*324A>G	XP_006721055.1:n.*324A>G
XM_011522766.3:c.*324A>G	XP_011521068.1:n.*324A>G
XM_011522767.2:c.*324A>G	XP_011521069.1:n.*324A>G
XM_017023910.1:c.*324A>G	XP_016879399.1:n.*324A>G
XM_017023911.1:c.*324A>G	XP_016879400.1:n.*324A>G
NM_014714.4:c.*324A>G MANE Select	NP_055529.2:n.*324A>G