Canonical Allele Identifier: CA394222268

Gene: IFT140

Linked Data

• dbSNP Id: rs2040123339
• gnomAD v4: 16-1510988-C-T
• MyVariant Identifiers: chr16:g.1560989C>T (hg19) ; chr16:g.1510988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510988C>T , CM000678.2:g.1510988C>T	GRCh38
NC_000016.9:g.1560989C>T , CM000678.1:g.1560989C>T	GRCh37
NC_000016.8:g.1500990C>T	NCBI36
NG_032783.1:g.106121G>A
NG_050910.1:g.22645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4345G>A MANE Select	ENSP00000406012.2:p.Glu1449Lys
ENST00000361339.9:c.1927G>A	ENSP00000354895.5:p.Glu643Lys
ENST00000397417.6:c.*2783G>A	ENSP00000380562.2:n.*2783G>A
ENST00000426508.6:c.4345G>A	ENSP00000406012.2:p.Glu1449Lys
ENST00000565298.5:n.4169G>A
NM_014714.3:c.4345G>A	NP_055529.2:p.Glu1449Lys
XM_006720989.2:c.4345G>A	XP_006721052.1:p.Glu1449Lys
XM_006720990.2:c.4345G>A	XP_006721053.1:p.Glu1449Lys
XM_006720991.2:c.4345G>A	XP_006721054.1:p.Glu1449Lys
XM_006720992.2:c.1978G>A	XP_006721055.1:p.Glu660Lys
XM_011522766.1:c.4099G>A	XP_011521068.1:p.Glu1367Lys
XM_011522767.1:c.3370G>A	XP_011521069.1:p.Glu1124Lys
XM_006720990.3:c.4345G>A	XP_006721053.1:p.Glu1449Lys
XM_006720991.3:c.4345G>A	XP_006721054.1:p.Glu1449Lys
XM_006720992.3:c.1978G>A	XP_006721055.1:p.Glu660Lys
XM_011522766.3:c.4099G>A	XP_011521068.1:p.Glu1367Lys
XM_011522767.2:c.3370G>A	XP_011521069.1:p.Glu1124Lys
XM_017023910.1:c.4345G>A	XP_016879399.1:p.Glu1449Lys
XM_017023911.1:c.2530G>A	XP_016879400.1:p.Glu844Lys
NM_014714.4:c.4345G>A MANE Select	NP_055529.2:p.Glu1449Lys