Canonical Allele Identifier: CA394224838

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570673T>C (hg19) ; chr16:g.1520672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520672T>C , CM000678.2:g.1520672T>C	GRCh38
NC_000016.9:g.1570673T>C , CM000678.1:g.1570673T>C	GRCh37
NC_000016.8:g.1510674T>C	NCBI36
NG_032783.1:g.96437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3590A>G MANE Select	ENSP00000406012.2:p.Asp1197Gly
ENST00000361339.9:c.1172A>G	ENSP00000354895.5:p.Asp391Gly
ENST00000397417.6:c.*2028A>G	ENSP00000380562.2:n.*2028A>G
ENST00000426508.6:c.3590A>G	ENSP00000406012.2:p.Asp1197Gly
ENST00000565298.5:n.3414A>G
NM_014714.3:c.3590A>G	NP_055529.2:p.Asp1197Gly
XM_006720989.2:c.3590A>G	XP_006721052.1:p.Asp1197Gly
XM_006720990.2:c.3590A>G	XP_006721053.1:p.Asp1197Gly
XM_006720991.2:c.3590A>G	XP_006721054.1:p.Asp1197Gly
XM_006720992.2:c.1223A>G	XP_006721055.1:p.Asp408Gly
XM_011522766.1:c.3344A>G	XP_011521068.1:p.Asp1115Gly
XM_011522767.1:c.2615A>G	XP_011521069.1:p.Asp872Gly
XM_006720990.3:c.3590A>G	XP_006721053.1:p.Asp1197Gly
XM_006720991.3:c.3590A>G	XP_006721054.1:p.Asp1197Gly
XM_006720992.3:c.1223A>G	XP_006721055.1:p.Asp408Gly
XM_011522766.3:c.3344A>G	XP_011521068.1:p.Asp1115Gly
XM_011522767.2:c.2615A>G	XP_011521069.1:p.Asp872Gly
XM_017023910.1:c.3590A>G	XP_016879399.1:p.Asp1197Gly
XM_017023911.1:c.1775A>G	XP_016879400.1:p.Asp592Gly
NM_014714.4:c.3590A>G MANE Select	NP_055529.2:p.Asp1197Gly