Canonical Allele Identifier: CA394227418

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1575977C>G (hg19) ; chr16:g.1525976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525976C>G , CM000678.2:g.1525976C>G	GRCh38
NC_000016.9:g.1575977C>G , CM000678.1:g.1575977C>G	GRCh37
NC_000016.8:g.1515978C>G	NCBI36
NG_032783.1:g.91133G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2679G>C MANE Select	ENSP00000406012.2:p.Glu893Asp
ENST00000361339.9:c.261G>C	ENSP00000354895.5:p.Glu87Asp
ENST00000397417.6:c.*1117G>C	ENSP00000380562.2:n.*1117G>C
ENST00000426508.6:c.2679G>C	ENSP00000406012.2:p.Glu893Asp
ENST00000565298.5:n.1908G>C
ENST00000566818.1:n.394G>C
NM_014714.3:c.2679G>C	NP_055529.2:p.Glu893Asp
XM_006720989.2:c.2679G>C	XP_006721052.1:p.Glu893Asp
XM_006720990.2:c.2679G>C	XP_006721053.1:p.Glu893Asp
XM_006720991.2:c.2679G>C	XP_006721054.1:p.Glu893Asp
XM_006720992.2:c.312G>C	XP_006721055.1:p.Glu104Asp
XM_011522766.1:c.2433G>C	XP_011521068.1:p.Glu811Asp
XM_011522767.1:c.1704G>C	XP_011521069.1:p.Glu568Asp
XM_006720990.3:c.2679G>C	XP_006721053.1:p.Glu893Asp
XM_006720991.3:c.2679G>C	XP_006721054.1:p.Glu893Asp
XM_006720992.3:c.312G>C	XP_006721055.1:p.Glu104Asp
XM_011522766.3:c.2433G>C	XP_011521068.1:p.Glu811Asp
XM_011522767.2:c.1704G>C	XP_011521069.1:p.Glu568Asp
XM_017023910.1:c.2679G>C	XP_016879399.1:p.Glu893Asp
XM_017023911.1:c.864G>C	XP_016879400.1:p.Glu288Asp
NM_014714.4:c.2679G>C MANE Select	NP_055529.2:p.Glu893Asp