Canonical Allele Identifier: CA394222300

Gene: IFT140

Linked Data

• gnomAD v4: 16-1511002-A-C
• MyVariant Identifiers: chr16:g.1561003A>C (hg19) ; chr16:g.1511002A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511002A>C , CM000678.2:g.1511002A>C	GRCh38
NC_000016.9:g.1561003A>C , CM000678.1:g.1561003A>C	GRCh37
NC_000016.8:g.1501004A>C	NCBI36
NG_032783.1:g.106107T>G
NG_050910.1:g.22659A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4331T>G MANE Select	ENSP00000406012.2:p.Met1444Arg
ENST00000361339.9:c.1913T>G	ENSP00000354895.5:p.Met638Arg
ENST00000397417.6:c.*2769T>G	ENSP00000380562.2:n.*2769T>G
ENST00000426508.6:c.4331T>G	ENSP00000406012.2:p.Met1444Arg
ENST00000565298.5:n.4155T>G
NM_014714.3:c.4331T>G	NP_055529.2:p.Met1444Arg
XM_006720989.2:c.4331T>G	XP_006721052.1:p.Met1444Arg
XM_006720990.2:c.4331T>G	XP_006721053.1:p.Met1444Arg
XM_006720991.2:c.4331T>G	XP_006721054.1:p.Met1444Arg
XM_006720992.2:c.1964T>G	XP_006721055.1:p.Met655Arg
XM_011522766.1:c.4085T>G	XP_011521068.1:p.Met1362Arg
XM_011522767.1:c.3356T>G	XP_011521069.1:p.Met1119Arg
XM_006720990.3:c.4331T>G	XP_006721053.1:p.Met1444Arg
XM_006720991.3:c.4331T>G	XP_006721054.1:p.Met1444Arg
XM_006720992.3:c.1964T>G	XP_006721055.1:p.Met655Arg
XM_011522766.3:c.4085T>G	XP_011521068.1:p.Met1362Arg
XM_011522767.2:c.3356T>G	XP_011521069.1:p.Met1119Arg
XM_017023910.1:c.4331T>G	XP_016879399.1:p.Met1444Arg
XM_017023911.1:c.2516T>G	XP_016879400.1:p.Met839Arg
NM_014714.4:c.4331T>G MANE Select	NP_055529.2:p.Met1444Arg