Canonical Allele Identifier: CA7812772

Gene: IFT140

Linked Data

• dbSNP Id: rs775384967
• ExAC: 16:1560969 C / T
• gnomAD v2: 16-1560969-C-T
• gnomAD v3: 16-1510968-C-T
• gnomAD v4: 16-1510968-C-T
• MyVariant Identifiers: chr16:g.1560969C>T (hg19) ; chr16:g.1510968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510968C>T , CM000678.2:g.1510968C>T	GRCh38
NC_000016.9:g.1560969C>T , CM000678.1:g.1560969C>T	GRCh37
NC_000016.8:g.1500970C>T	NCBI36
NG_032783.1:g.106141G>A
NG_050910.1:g.22625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4365G>A MANE Select	ENSP00000406012.2:p.Val1455=
ENST00000361339.9:c.1947G>A	ENSP00000354895.5:p.Val649=
ENST00000397417.6:c.*2803G>A	ENSP00000380562.2:n.*2803G>A
ENST00000426508.6:c.4365G>A	ENSP00000406012.2:p.Val1455=
ENST00000565298.5:n.4189G>A
NM_014714.3:c.4365G>A	NP_055529.2:p.Val1455=
XM_006720989.2:c.4365G>A	XP_006721052.1:p.Val1455=
XM_006720990.2:c.4365G>A	XP_006721053.1:p.Val1455=
XM_006720991.2:c.4365G>A	XP_006721054.1:p.Val1455=
XM_006720992.2:c.1998G>A	XP_006721055.1:p.Val666=
XM_011522766.1:c.4119G>A	XP_011521068.1:p.Val1373=
XM_011522767.1:c.3390G>A	XP_011521069.1:p.Val1130=
XM_006720990.3:c.4365G>A	XP_006721053.1:p.Val1455=
XM_006720991.3:c.4365G>A	XP_006721054.1:p.Val1455=
XM_006720992.3:c.1998G>A	XP_006721055.1:p.Val666=
XM_011522766.3:c.4119G>A	XP_011521068.1:p.Val1373=
XM_011522767.2:c.3390G>A	XP_011521069.1:p.Val1130=
XM_017023910.1:c.4365G>A	XP_016879399.1:p.Val1455=
XM_017023911.1:c.2550G>A	XP_016879400.1:p.Val850=
NM_014714.4:c.4365G>A MANE Select	NP_055529.2:p.Val1455=