Canonical Allele Identifier: CA276680454

Gene: IFT140

Linked Data

• dbSNP Id: rs1057250051
• gnomAD v4: 16-1525975-G-A
• MyVariant Identifiers: chr16:g.1575976G>A (hg19) ; chr16:g.1525975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525975G>A , CM000678.2:g.1525975G>A	GRCh38
NC_000016.9:g.1575976G>A , CM000678.1:g.1575976G>A	GRCh37
NC_000016.8:g.1515977G>A	NCBI36
NG_032783.1:g.91134C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2680C>T MANE Select	ENSP00000406012.2:p.His894Tyr
ENST00000361339.9:c.262C>T	ENSP00000354895.5:p.His88Tyr
ENST00000397417.6:c.*1118C>T	ENSP00000380562.2:n.*1118C>T
ENST00000426508.6:c.2680C>T	ENSP00000406012.2:p.His894Tyr
ENST00000565298.5:n.1909C>T
ENST00000566818.1:n.395C>T
NM_014714.3:c.2680C>T	NP_055529.2:p.His894Tyr
XM_006720989.2:c.2680C>T	XP_006721052.1:p.His894Tyr
XM_006720990.2:c.2680C>T	XP_006721053.1:p.His894Tyr
XM_006720991.2:c.2680C>T	XP_006721054.1:p.His894Tyr
XM_006720992.2:c.313C>T	XP_006721055.1:p.His105Tyr
XM_011522766.1:c.2434C>T	XP_011521068.1:p.His812Tyr
XM_011522767.1:c.1705C>T	XP_011521069.1:p.His569Tyr
XM_006720990.3:c.2680C>T	XP_006721053.1:p.His894Tyr
XM_006720991.3:c.2680C>T	XP_006721054.1:p.His894Tyr
XM_006720992.3:c.313C>T	XP_006721055.1:p.His105Tyr
XM_011522766.3:c.2434C>T	XP_011521068.1:p.His812Tyr
XM_011522767.2:c.1705C>T	XP_011521069.1:p.His569Tyr
XM_017023910.1:c.2680C>T	XP_016879399.1:p.His894Tyr
XM_017023911.1:c.865C>T	XP_016879400.1:p.His289Tyr
NM_014714.4:c.2680C>T MANE Select	NP_055529.2:p.His894Tyr