Canonical Allele Identifier: CA394222193

Gene: IFT140

Linked Data

• gnomAD v4: 16-1510955-C-A
• MyVariant Identifiers: chr16:g.1560956C>A (hg19) ; chr16:g.1510955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510955C>A , CM000678.2:g.1510955C>A	GRCh38
NC_000016.9:g.1560956C>A , CM000678.1:g.1560956C>A	GRCh37
NC_000016.8:g.1500957C>A	NCBI36
NG_032783.1:g.106154G>T
NG_050910.1:g.22612C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4378G>T MANE Select	ENSP00000406012.2:p.Asp1460Tyr
ENST00000361339.9:c.1960G>T	ENSP00000354895.5:p.Asp654Tyr
ENST00000397417.6:c.*2816G>T	ENSP00000380562.2:n.*2816G>T
ENST00000426508.6:c.4378G>T	ENSP00000406012.2:p.Asp1460Tyr
ENST00000565298.5:n.4202G>T
NM_014714.3:c.4378G>T	NP_055529.2:p.Asp1460Tyr
XM_006720989.2:c.4378G>T	XP_006721052.1:p.Asp1460Tyr
XM_006720990.2:c.4378G>T	XP_006721053.1:p.Asp1460Tyr
XM_006720991.2:c.4378G>T	XP_006721054.1:p.Asp1460Tyr
XM_006720992.2:c.2011G>T	XP_006721055.1:p.Asp671Tyr
XM_011522766.1:c.4132G>T	XP_011521068.1:p.Asp1378Tyr
XM_011522767.1:c.3403G>T	XP_011521069.1:p.Asp1135Tyr
XM_006720990.3:c.4378G>T	XP_006721053.1:p.Asp1460Tyr
XM_006720991.3:c.4378G>T	XP_006721054.1:p.Asp1460Tyr
XM_006720992.3:c.2011G>T	XP_006721055.1:p.Asp671Tyr
XM_011522766.3:c.4132G>T	XP_011521068.1:p.Asp1378Tyr
XM_011522767.2:c.3403G>T	XP_011521069.1:p.Asp1135Tyr
XM_017023910.1:c.4378G>T	XP_016879399.1:p.Asp1460Tyr
XM_017023911.1:c.2563G>T	XP_016879400.1:p.Asp855Tyr
NM_014714.4:c.4378G>T MANE Select	NP_055529.2:p.Asp1460Tyr