Canonical Allele Identifier: CA394222581

Gene: IFT140

Linked Data

• dbSNP Id: rs2040132852
• gnomAD v4: 16-1511147-A-G
• MyVariant Identifiers: chr16:g.1561148A>G (hg19) ; chr16:g.1511147A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511147A>G , CM000678.2:g.1511147A>G	GRCh38
NC_000016.9:g.1561148A>G , CM000678.1:g.1561148A>G	GRCh37
NC_000016.8:g.1501149A>G	NCBI36
NG_032783.1:g.105962T>C
NG_050910.1:g.22804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4186T>C MANE Select	ENSP00000406012.2:p.Tyr1396His
ENST00000361339.9:c.1768T>C	ENSP00000354895.5:p.Tyr590His
ENST00000397417.6:c.*2624T>C	ENSP00000380562.2:n.*2624T>C
ENST00000426508.6:c.4186T>C	ENSP00000406012.2:p.Tyr1396His
ENST00000565298.5:n.4010T>C
NM_014714.3:c.4186T>C	NP_055529.2:p.Tyr1396His
XM_006720989.2:c.4186T>C	XP_006721052.1:p.Tyr1396His
XM_006720990.2:c.4186T>C	XP_006721053.1:p.Tyr1396His
XM_006720991.2:c.4186T>C	XP_006721054.1:p.Tyr1396His
XM_006720992.2:c.1819T>C	XP_006721055.1:p.Tyr607His
XM_011522766.1:c.3940T>C	XP_011521068.1:p.Tyr1314His
XM_011522767.1:c.3211T>C	XP_011521069.1:p.Tyr1071His
XM_006720990.3:c.4186T>C	XP_006721053.1:p.Tyr1396His
XM_006720991.3:c.4186T>C	XP_006721054.1:p.Tyr1396His
XM_006720992.3:c.1819T>C	XP_006721055.1:p.Tyr607His
XM_011522766.3:c.3940T>C	XP_011521068.1:p.Tyr1314His
XM_011522767.2:c.3211T>C	XP_011521069.1:p.Tyr1071His
XM_017023910.1:c.4186T>C	XP_016879399.1:p.Tyr1396His
XM_017023911.1:c.2371T>C	XP_016879400.1:p.Tyr791His
NM_014714.4:c.4186T>C MANE Select	NP_055529.2:p.Tyr1396His