Canonical Allele Identifier: CA394224132

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520015T>G , CM000678.2:g.1520015T>G	GRCh38
NC_000016.9:g.1570016T>G , CM000678.1:g.1570016T>G	GRCh37
NC_000016.8:g.1510017T>G	NCBI36
NG_032783.1:g.97094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3906A>C MANE Select	ENSP00000406012.2:p.Lys1302Asn
ENST00000361339.9:c.1488A>C	ENSP00000354895.5:p.Lys496Asn
ENST00000397417.6:c.*2344A>C	ENSP00000380562.2:n.*2344A>C
ENST00000426508.6:c.3906A>C	ENSP00000406012.2:p.Lys1302Asn
ENST00000565298.5:n.3730A>C
ENST00000568837.1:c.24A>C	ENSP00000458439.1:p.Lys8Asn
NM_014714.3:c.3906A>C	NP_055529.2:p.Lys1302Asn
XM_006720989.2:c.3906A>C	XP_006721052.1:p.Lys1302Asn
XM_006720990.2:c.3906A>C	XP_006721053.1:p.Lys1302Asn
XM_006720991.2:c.3906A>C	XP_006721054.1:p.Lys1302Asn
XM_006720992.2:c.1539A>C	XP_006721055.1:p.Lys513Asn
XM_011522766.1:c.3660A>C	XP_011521068.1:p.Lys1220Asn
XM_011522767.1:c.2931A>C	XP_011521069.1:p.Lys977Asn
XM_006720990.3:c.3906A>C	XP_006721053.1:p.Lys1302Asn
XM_006720991.3:c.3906A>C	XP_006721054.1:p.Lys1302Asn
XM_006720992.3:c.1539A>C	XP_006721055.1:p.Lys513Asn
XM_011522766.3:c.3660A>C	XP_011521068.1:p.Lys1220Asn
XM_011522767.2:c.2931A>C	XP_011521069.1:p.Lys977Asn
XM_017023910.1:c.3906A>C	XP_016879399.1:p.Lys1302Asn
XM_017023911.1:c.2091A>C	XP_016879400.1:p.Lys697Asn
NM_014714.4:c.3906A>C MANE Select	NP_055529.2:p.Lys1302Asn