Canonical Allele Identifier: CA7812820

Gene: IFT140

Linked Data

• dbSNP Id: rs758112795
• ExAC: 16:1561104 G / T
• gnomAD v2: 16-1561104-G-T
• gnomAD v4: 16-1511103-G-T
• MyVariant Identifiers: chr16:g.1561104G>T (hg19) ; chr16:g.1511103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511103G>T , CM000678.2:g.1511103G>T	GRCh38
NC_000016.9:g.1561104G>T , CM000678.1:g.1561104G>T	GRCh37
NC_000016.8:g.1501105G>T	NCBI36
NG_032783.1:g.106006C>A
NG_050910.1:g.22760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4230C>A MANE Select	ENSP00000406012.2:p.Asn1410Lys
ENST00000361339.9:c.1812C>A	ENSP00000354895.5:p.Asn604Lys
ENST00000397417.6:c.*2668C>A	ENSP00000380562.2:n.*2668C>A
ENST00000426508.6:c.4230C>A	ENSP00000406012.2:p.Asn1410Lys
ENST00000565298.5:n.4054C>A
NM_014714.3:c.4230C>A	NP_055529.2:p.Asn1410Lys
XM_006720989.2:c.4230C>A	XP_006721052.1:p.Asn1410Lys
XM_006720990.2:c.4230C>A	XP_006721053.1:p.Asn1410Lys
XM_006720991.2:c.4230C>A	XP_006721054.1:p.Asn1410Lys
XM_006720992.2:c.1863C>A	XP_006721055.1:p.Asn621Lys
XM_011522766.1:c.3984C>A	XP_011521068.1:p.Asn1328Lys
XM_011522767.1:c.3255C>A	XP_011521069.1:p.Asn1085Lys
XM_006720990.3:c.4230C>A	XP_006721053.1:p.Asn1410Lys
XM_006720991.3:c.4230C>A	XP_006721054.1:p.Asn1410Lys
XM_006720992.3:c.1863C>A	XP_006721055.1:p.Asn621Lys
XM_011522766.3:c.3984C>A	XP_011521068.1:p.Asn1328Lys
XM_011522767.2:c.3255C>A	XP_011521069.1:p.Asn1085Lys
XM_017023910.1:c.4230C>A	XP_016879399.1:p.Asn1410Lys
XM_017023911.1:c.2415C>A	XP_016879400.1:p.Asn805Lys
NM_014714.4:c.4230C>A MANE Select	NP_055529.2:p.Asn1410Lys