Canonical Allele Identifier: CA394225330

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1573610G>A (hg19) ; chr16:g.1523609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523609G>A , CM000678.2:g.1523609G>A	GRCh38
NC_000016.9:g.1573610G>A , CM000678.1:g.1573610G>A	GRCh37
NC_000016.8:g.1513611G>A	NCBI36
NG_032783.1:g.93500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3362C>T MANE Select	ENSP00000406012.2:p.Ser1121Leu
ENST00000361339.9:c.944C>T	ENSP00000354895.5:p.Ser315Leu
ENST00000397417.6:c.*1800C>T	ENSP00000380562.2:n.*1800C>T
ENST00000426508.6:c.3362C>T	ENSP00000406012.2:p.Ser1121Leu
ENST00000565298.5:n.3186C>T
NM_014714.3:c.3362C>T	NP_055529.2:p.Ser1121Leu
XM_006720989.2:c.3362C>T	XP_006721052.1:p.Ser1121Leu
XM_006720990.2:c.3362C>T	XP_006721053.1:p.Ser1121Leu
XM_006720991.2:c.3362C>T	XP_006721054.1:p.Ser1121Leu
XM_006720992.2:c.995C>T	XP_006721055.1:p.Ser332Leu
XM_011522766.1:c.3116C>T	XP_011521068.1:p.Ser1039Leu
XM_011522767.1:c.2387C>T	XP_011521069.1:p.Ser796Leu
XM_006720990.3:c.3362C>T	XP_006721053.1:p.Ser1121Leu
XM_006720991.3:c.3362C>T	XP_006721054.1:p.Ser1121Leu
XM_006720992.3:c.995C>T	XP_006721055.1:p.Ser332Leu
XM_011522766.3:c.3116C>T	XP_011521068.1:p.Ser1039Leu
XM_011522767.2:c.2387C>T	XP_011521069.1:p.Ser796Leu
XM_017023910.1:c.3362C>T	XP_016879399.1:p.Ser1121Leu
XM_017023911.1:c.1547C>T	XP_016879400.1:p.Ser516Leu
NM_014714.4:c.3362C>T MANE Select	NP_055529.2:p.Ser1121Leu