Canonical Allele Identifier: CA394224311

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570179C>A (hg19) ; chr16:g.1520178C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520178C>A , CM000678.2:g.1520178C>A	GRCh38
NC_000016.9:g.1570179C>A , CM000678.1:g.1570179C>A	GRCh37
NC_000016.8:g.1510180C>A	NCBI36
NG_032783.1:g.96931G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3826G>T MANE Select	ENSP00000406012.2:p.Gly1276Trp
ENST00000361339.9:c.1408G>T	ENSP00000354895.5:p.Gly470Trp
ENST00000397417.6:c.*2264G>T	ENSP00000380562.2:n.*2264G>T
ENST00000426508.6:c.3826G>T	ENSP00000406012.2:p.Gly1276Trp
ENST00000565298.5:n.3650G>T
NM_014714.3:c.3826G>T	NP_055529.2:p.Gly1276Trp
XM_006720989.2:c.3826G>T	XP_006721052.1:p.Gly1276Trp
XM_006720990.2:c.3826G>T	XP_006721053.1:p.Gly1276Trp
XM_006720991.2:c.3826G>T	XP_006721054.1:p.Gly1276Trp
XM_006720992.2:c.1459G>T	XP_006721055.1:p.Gly487Trp
XM_011522766.1:c.3580G>T	XP_011521068.1:p.Gly1194Trp
XM_011522767.1:c.2851G>T	XP_011521069.1:p.Gly951Trp
XM_006720990.3:c.3826G>T	XP_006721053.1:p.Gly1276Trp
XM_006720991.3:c.3826G>T	XP_006721054.1:p.Gly1276Trp
XM_006720992.3:c.1459G>T	XP_006721055.1:p.Gly487Trp
XM_011522766.3:c.3580G>T	XP_011521068.1:p.Gly1194Trp
XM_011522767.2:c.2851G>T	XP_011521069.1:p.Gly951Trp
XM_017023910.1:c.3826G>T	XP_016879399.1:p.Gly1276Trp
XM_017023911.1:c.2011G>T	XP_016879400.1:p.Gly671Trp
NM_014714.4:c.3826G>T MANE Select	NP_055529.2:p.Gly1276Trp