Canonical Allele Identifier: CA7813032

Gene: IFT140

Linked Data

• dbSNP Id: rs777466783
• ExAC: 16:1570186 G / A
• gnomAD v2: 16-1570186-G-A
• gnomAD v3: 16-1520185-G-A
• gnomAD v4: 16-1520185-G-A
• MyVariant Identifiers: chr16:g.1570186G>A (hg19) ; chr16:g.1520185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520185G>A , CM000678.2:g.1520185G>A	GRCh38
NC_000016.9:g.1570186G>A , CM000678.1:g.1570186G>A	GRCh37
NC_000016.8:g.1510187G>A	NCBI36
NG_032783.1:g.96924C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3819C>T MANE Select	ENSP00000406012.2:p.Tyr1273=
ENST00000361339.9:c.1401C>T	ENSP00000354895.5:p.Tyr467=
ENST00000397417.6:c.*2257C>T	ENSP00000380562.2:n.*2257C>T
ENST00000426508.6:c.3819C>T	ENSP00000406012.2:p.Tyr1273=
ENST00000565298.5:n.3643C>T
NM_014714.3:c.3819C>T	NP_055529.2:p.Tyr1273=
XM_006720989.2:c.3819C>T	XP_006721052.1:p.Tyr1273=
XM_006720990.2:c.3819C>T	XP_006721053.1:p.Tyr1273=
XM_006720991.2:c.3819C>T	XP_006721054.1:p.Tyr1273=
XM_006720992.2:c.1452C>T	XP_006721055.1:p.Tyr484=
XM_011522766.1:c.3573C>T	XP_011521068.1:p.Tyr1191=
XM_011522767.1:c.2844C>T	XP_011521069.1:p.Tyr948=
XM_006720990.3:c.3819C>T	XP_006721053.1:p.Tyr1273=
XM_006720991.3:c.3819C>T	XP_006721054.1:p.Tyr1273=
XM_006720992.3:c.1452C>T	XP_006721055.1:p.Tyr484=
XM_011522766.3:c.3573C>T	XP_011521068.1:p.Tyr1191=
XM_011522767.2:c.2844C>T	XP_011521069.1:p.Tyr948=
XM_017023910.1:c.3819C>T	XP_016879399.1:p.Tyr1273=
XM_017023911.1:c.2004C>T	XP_016879400.1:p.Tyr668=
NM_014714.4:c.3819C>T MANE Select	NP_055529.2:p.Tyr1273=