Canonical Allele Identifier: CA7813101

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520664T>G , CM000678.2:g.1520664T>G	GRCh38
NC_000016.9:g.1570665T>G , CM000678.1:g.1570665T>G	GRCh37
NC_000016.8:g.1510666T>G	NCBI36
NG_032783.1:g.96445A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014714.4:c.3598A>C MANE Select	NP_055529.2:p.Met1200Leu
ENST00000426508.7:c.3598A>C MANE Select	ENSP00000406012.2:p.Met1200Leu
NM_014714.3:c.3598A>C	NP_055529.2:p.Met1200Leu
ENST00000361339.9:c.1180A>C	ENSP00000354895.5:p.Met394Leu
ENST00000397417.6:c.*2036A>C	ENSP00000380562.2:n.*2036A>C
ENST00000426508.6:c.3598A>C	ENSP00000406012.2:p.Met1200Leu
ENST00000565298.5:n.3422A>C
XM_006720989.2:c.3598A>C	XP_006721052.1:p.Met1200Leu
XM_006720990.2:c.3598A>C	XP_006721053.1:p.Met1200Leu
XM_006720990.3:c.3598A>C	XP_006721053.1:p.Met1200Leu
XM_006720991.2:c.3598A>C	XP_006721054.1:p.Met1200Leu
XM_006720991.3:c.3598A>C	XP_006721054.1:p.Met1200Leu
XM_006720992.2:c.1231A>C	XP_006721055.1:p.Met411Leu
XM_006720992.3:c.1231A>C	XP_006721055.1:p.Met411Leu
XM_011522766.1:c.3352A>C	XP_011521068.1:p.Met1118Leu
XM_011522766.3:c.3352A>C	XP_011521068.1:p.Met1118Leu
XM_011522767.1:c.2623A>C	XP_011521069.1:p.Met875Leu
XM_011522767.2:c.2623A>C	XP_011521069.1:p.Met875Leu
XM_017023910.1:c.3598A>C	XP_016879399.1:p.Met1200Leu
XM_017023911.1:c.1783A>C	XP_016879400.1:p.Met595Leu