Canonical Allele Identifier: CA394225126

Gene: IFT140

Linked Data

• MyVariant Identifiers: chr16:g.1570809A>T (hg19) ; chr16:g.1520808A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520808A>T , CM000678.2:g.1520808A>T	GRCh38
NC_000016.9:g.1570809A>T , CM000678.1:g.1570809A>T	GRCh37
NC_000016.8:g.1510810A>T	NCBI36
NG_032783.1:g.96301T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3454T>A MANE Select	ENSP00000406012.2:p.Tyr1152Asn
ENST00000361339.9:c.1036T>A	ENSP00000354895.5:p.Tyr346Asn
ENST00000397417.6:c.*1892T>A	ENSP00000380562.2:n.*1892T>A
ENST00000426508.6:c.3454T>A	ENSP00000406012.2:p.Tyr1152Asn
ENST00000565298.5:n.3278T>A
NM_014714.3:c.3454T>A	NP_055529.2:p.Tyr1152Asn
XM_006720989.2:c.3454T>A	XP_006721052.1:p.Tyr1152Asn
XM_006720990.2:c.3454T>A	XP_006721053.1:p.Tyr1152Asn
XM_006720991.2:c.3454T>A	XP_006721054.1:p.Tyr1152Asn
XM_006720992.2:c.1087T>A	XP_006721055.1:p.Tyr363Asn
XM_011522766.1:c.3208T>A	XP_011521068.1:p.Tyr1070Asn
XM_011522767.1:c.2479T>A	XP_011521069.1:p.Tyr827Asn
XM_006720990.3:c.3454T>A	XP_006721053.1:p.Tyr1152Asn
XM_006720991.3:c.3454T>A	XP_006721054.1:p.Tyr1152Asn
XM_006720992.3:c.1087T>A	XP_006721055.1:p.Tyr363Asn
XM_011522766.3:c.3208T>A	XP_011521068.1:p.Tyr1070Asn
XM_011522767.2:c.2479T>A	XP_011521069.1:p.Tyr827Asn
XM_017023910.1:c.3454T>A	XP_016879399.1:p.Tyr1152Asn
XM_017023911.1:c.1639T>A	XP_016879400.1:p.Tyr547Asn
NM_014714.4:c.3454T>A MANE Select	NP_055529.2:p.Tyr1152Asn