Canonical Allele Identifier: CA492931918

Gene: IFT140

Linked Data

• ClinVar Variation Id: 746958
• ClinVar RCV Id: RCV002065993 ; RCV002502807
• dbSNP Id: rs752664070
• gnomAD v2: 16-1570738-G-A
• gnomAD v4: 16-1520737-G-A
• MyVariant Identifiers: chr16:g.1570738G>A (hg19) ; chr16:g.1520737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520737G>A , CM000678.2:g.1520737G>A	GRCh38
NC_000016.9:g.1570738G>A , CM000678.1:g.1570738G>A	GRCh37
NC_000016.8:g.1510739G>A	NCBI36
NG_032783.1:g.96372C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3525C>T MANE Select	ENSP00000406012.2:p.Thr1175=
ENST00000361339.9:c.1107C>T	ENSP00000354895.5:p.Thr369=
ENST00000397417.6:c.*1963C>T	ENSP00000380562.2:n.*1963C>T
ENST00000426508.6:c.3525C>T	ENSP00000406012.2:p.Thr1175=
ENST00000565298.5:n.3349C>T
NM_014714.3:c.3525C>T	NP_055529.2:p.Thr1175=
XM_006720989.2:c.3525C>T	XP_006721052.1:p.Thr1175=
XM_006720990.2:c.3525C>T	XP_006721053.1:p.Thr1175=
XM_006720991.2:c.3525C>T	XP_006721054.1:p.Thr1175=
XM_006720992.2:c.1158C>T	XP_006721055.1:p.Thr386=
XM_011522766.1:c.3279C>T	XP_011521068.1:p.Thr1093=
XM_011522767.1:c.2550C>T	XP_011521069.1:p.Thr850=
XM_006720990.3:c.3525C>T	XP_006721053.1:p.Thr1175=
XM_006720991.3:c.3525C>T	XP_006721054.1:p.Thr1175=
XM_006720992.3:c.1158C>T	XP_006721055.1:p.Thr386=
XM_011522766.3:c.3279C>T	XP_011521068.1:p.Thr1093=
XM_011522767.2:c.2550C>T	XP_011521069.1:p.Thr850=
XM_017023910.1:c.3525C>T	XP_016879399.1:p.Thr1175=
XM_017023911.1:c.1710C>T	XP_016879400.1:p.Thr570=
NM_014714.4:c.3525C>T MANE Select	NP_055529.2:p.Thr1175=