Canonical Allele Identifier: CA7813175

Gene: IFT140

Linked Data

• ClinVar Variation Id: 771588
• ClinVar RCV Id: RCV000950929 ; RCV001701258 ; RCV001726379 ; RCV002479094 ; RCV003960620
• dbSNP Id: rs202224171
• ExAC: 16:1573546 C / T
• gnomAD v2: 16-1573546-C-T
• gnomAD v3: 16-1523545-C-T
• gnomAD v4: 16-1523545-C-T
• MyVariant Identifiers: chr16:g.1573546C>T (hg19) ; chr16:g.1523545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523545C>T , CM000678.2:g.1523545C>T	GRCh38
NC_000016.9:g.1573546C>T , CM000678.1:g.1573546C>T	GRCh37
NC_000016.8:g.1513547C>T	NCBI36
NG_032783.1:g.93564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3426G>A MANE Select	ENSP00000406012.2:p.Ala1142=
ENST00000361339.9:c.1008G>A	ENSP00000354895.5:p.Ala336=
ENST00000397417.6:c.*1864G>A	ENSP00000380562.2:n.*1864G>A
ENST00000426508.6:c.3426G>A	ENSP00000406012.2:p.Ala1142=
ENST00000565298.5:n.3250G>A
NM_014714.3:c.3426G>A	NP_055529.2:p.Ala1142=
XM_006720989.2:c.3426G>A	XP_006721052.1:p.Ala1142=
XM_006720990.2:c.3426G>A	XP_006721053.1:p.Ala1142=
XM_006720991.2:c.3426G>A	XP_006721054.1:p.Ala1142=
XM_006720992.2:c.1059G>A	XP_006721055.1:p.Ala353=
XM_011522766.1:c.3180G>A	XP_011521068.1:p.Ala1060=
XM_011522767.1:c.2451G>A	XP_011521069.1:p.Ala817=
XM_006720990.3:c.3426G>A	XP_006721053.1:p.Ala1142=
XM_006720991.3:c.3426G>A	XP_006721054.1:p.Ala1142=
XM_006720992.3:c.1059G>A	XP_006721055.1:p.Ala353=
XM_011522766.3:c.3180G>A	XP_011521068.1:p.Ala1060=
XM_011522767.2:c.2451G>A	XP_011521069.1:p.Ala817=
XM_017023910.1:c.3426G>A	XP_016879399.1:p.Ala1142=
XM_017023911.1:c.1611G>A	XP_016879400.1:p.Ala537=
NM_014714.4:c.3426G>A MANE Select	NP_055529.2:p.Ala1142=