Canonical Allele Identifier: CA493031715

Gene: IFT140

Linked Data

• ClinVar Variation Id: 2095905
• ClinVar RCV Id: RCV003012571
• dbSNP Id: rs1441242580
• gnomAD v2: 16-1573539-G-A
• gnomAD v4: 16-1523538-G-A
• MyVariant Identifiers: chr16:g.1573539G>A (hg19) ; chr16:g.1523538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523538G>A , CM000678.2:g.1523538G>A	GRCh38
NC_000016.9:g.1573539G>A , CM000678.1:g.1573539G>A	GRCh37
NC_000016.8:g.1513540G>A	NCBI36
NG_032783.1:g.93571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3433C>T MANE Select	ENSP00000406012.2:p.Leu1145=
ENST00000361339.9:c.1015C>T	ENSP00000354895.5:p.Leu339=
ENST00000397417.6:c.*1871C>T	ENSP00000380562.2:n.*1871C>T
ENST00000426508.6:c.3433C>T	ENSP00000406012.2:p.Leu1145=
ENST00000565298.5:n.3257C>T
NM_014714.3:c.3433C>T	NP_055529.2:p.Leu1145=
XM_006720989.2:c.3433C>T	XP_006721052.1:p.Leu1145=
XM_006720990.2:c.3433C>T	XP_006721053.1:p.Leu1145=
XM_006720991.2:c.3433C>T	XP_006721054.1:p.Leu1145=
XM_006720992.2:c.1066C>T	XP_006721055.1:p.Leu356=
XM_011522766.1:c.3187C>T	XP_011521068.1:p.Leu1063=
XM_011522767.1:c.2458C>T	XP_011521069.1:p.Leu820=
XM_006720990.3:c.3433C>T	XP_006721053.1:p.Leu1145=
XM_006720991.3:c.3433C>T	XP_006721054.1:p.Leu1145=
XM_006720992.3:c.1066C>T	XP_006721055.1:p.Leu356=
XM_011522766.3:c.3187C>T	XP_011521068.1:p.Leu1063=
XM_011522767.2:c.2458C>T	XP_011521069.1:p.Leu820=
XM_017023910.1:c.3433C>T	XP_016879399.1:p.Leu1145=
XM_017023911.1:c.1618C>T	XP_016879400.1:p.Leu540=
NM_014714.4:c.3433C>T MANE Select	NP_055529.2:p.Leu1145=