Canonical Allele Identifier: CA394224983

Gene: IFT140

Linked Data

• dbSNP Id: rs1427436267
• gnomAD v2: 16-1570746-T-C
• gnomAD v4: 16-1520745-T-C
• MyVariant Identifiers: chr16:g.1570746T>C (hg19) ; chr16:g.1520745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520745T>C , CM000678.2:g.1520745T>C	GRCh38
NC_000016.9:g.1570746T>C , CM000678.1:g.1570746T>C	GRCh37
NC_000016.8:g.1510747T>C	NCBI36
NG_032783.1:g.96364A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3517A>G MANE Select	ENSP00000406012.2:p.Lys1173Glu
ENST00000361339.9:c.1099A>G	ENSP00000354895.5:p.Lys367Glu
ENST00000397417.6:c.*1955A>G	ENSP00000380562.2:n.*1955A>G
ENST00000426508.6:c.3517A>G	ENSP00000406012.2:p.Lys1173Glu
ENST00000565298.5:n.3341A>G
NM_014714.3:c.3517A>G	NP_055529.2:p.Lys1173Glu
XM_006720989.2:c.3517A>G	XP_006721052.1:p.Lys1173Glu
XM_006720990.2:c.3517A>G	XP_006721053.1:p.Lys1173Glu
XM_006720991.2:c.3517A>G	XP_006721054.1:p.Lys1173Glu
XM_006720992.2:c.1150A>G	XP_006721055.1:p.Lys384Glu
XM_011522766.1:c.3271A>G	XP_011521068.1:p.Lys1091Glu
XM_011522767.1:c.2542A>G	XP_011521069.1:p.Lys848Glu
XM_006720990.3:c.3517A>G	XP_006721053.1:p.Lys1173Glu
XM_006720991.3:c.3517A>G	XP_006721054.1:p.Lys1173Glu
XM_006720992.3:c.1150A>G	XP_006721055.1:p.Lys384Glu
XM_011522766.3:c.3271A>G	XP_011521068.1:p.Lys1091Glu
XM_011522767.2:c.2542A>G	XP_011521069.1:p.Lys848Glu
XM_017023910.1:c.3517A>G	XP_016879399.1:p.Lys1173Glu
XM_017023911.1:c.1702A>G	XP_016879400.1:p.Lys568Glu
NM_014714.4:c.3517A>G MANE Select	NP_055529.2:p.Lys1173Glu