Canonical Allele Identifier: CA7813129

Gene: IFT140

Linked Data

• ClinVar Variation Id: 887715
• ClinVar RCV Id: RCV001120616 ; RCV003883556
• dbSNP Id: rs763709094
• ExAC: 16:1570750 C / T
• gnomAD v2: 16-1570750-C-T
• gnomAD v3: 16-1520749-C-T
• gnomAD v4: 16-1520749-C-T
• MyVariant Identifiers: chr16:g.1570750C>T (hg19) ; chr16:g.1520749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520749C>T , CM000678.2:g.1520749C>T	GRCh38
NC_000016.9:g.1570750C>T , CM000678.1:g.1570750C>T	GRCh37
NC_000016.8:g.1510751C>T	NCBI36
NG_032783.1:g.96360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3513G>A MANE Select	ENSP00000406012.2:p.Ala1171=
ENST00000361339.9:c.1095G>A	ENSP00000354895.5:p.Ala365=
ENST00000397417.6:c.*1951G>A	ENSP00000380562.2:n.*1951G>A
ENST00000426508.6:c.3513G>A	ENSP00000406012.2:p.Ala1171=
ENST00000565298.5:n.3337G>A
NM_014714.3:c.3513G>A	NP_055529.2:p.Ala1171=
XM_006720989.2:c.3513G>A	XP_006721052.1:p.Ala1171=
XM_006720990.2:c.3513G>A	XP_006721053.1:p.Ala1171=
XM_006720991.2:c.3513G>A	XP_006721054.1:p.Ala1171=
XM_006720992.2:c.1146G>A	XP_006721055.1:p.Ala382=
XM_011522766.1:c.3267G>A	XP_011521068.1:p.Ala1089=
XM_011522767.1:c.2538G>A	XP_011521069.1:p.Ala846=
XM_006720990.3:c.3513G>A	XP_006721053.1:p.Ala1171=
XM_006720991.3:c.3513G>A	XP_006721054.1:p.Ala1171=
XM_006720992.3:c.1146G>A	XP_006721055.1:p.Ala382=
XM_011522766.3:c.3267G>A	XP_011521068.1:p.Ala1089=
XM_011522767.2:c.2538G>A	XP_011521069.1:p.Ala846=
XM_017023910.1:c.3513G>A	XP_016879399.1:p.Ala1171=
XM_017023911.1:c.1698G>A	XP_016879400.1:p.Ala566=
NM_014714.4:c.3513G>A MANE Select	NP_055529.2:p.Ala1171=