Canonical Allele Identifier: CA394222254

Gene: IFT140

Linked Data

• dbSNP Id: rs1262551083
• gnomAD v2: 16-1560983-C-G
• MyVariant Identifiers: chr16:g.1560983C>G (hg19) ; chr16:g.1510982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510982C>G , CM000678.2:g.1510982C>G	GRCh38
NC_000016.9:g.1560983C>G , CM000678.1:g.1560983C>G	GRCh37
NC_000016.8:g.1500984C>G	NCBI36
NG_032783.1:g.106127G>C
NG_050910.1:g.22639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4351G>C MANE Select	ENSP00000406012.2:p.Asp1451His
ENST00000361339.9:c.1933G>C	ENSP00000354895.5:p.Asp645His
ENST00000397417.6:c.*2789G>C	ENSP00000380562.2:n.*2789G>C
ENST00000426508.6:c.4351G>C	ENSP00000406012.2:p.Asp1451His
ENST00000565298.5:n.4175G>C
NM_014714.3:c.4351G>C	NP_055529.2:p.Asp1451His
XM_006720989.2:c.4351G>C	XP_006721052.1:p.Asp1451His
XM_006720990.2:c.4351G>C	XP_006721053.1:p.Asp1451His
XM_006720991.2:c.4351G>C	XP_006721054.1:p.Asp1451His
XM_006720992.2:c.1984G>C	XP_006721055.1:p.Asp662His
XM_011522766.1:c.4105G>C	XP_011521068.1:p.Asp1369His
XM_011522767.1:c.3376G>C	XP_011521069.1:p.Asp1126His
XM_006720990.3:c.4351G>C	XP_006721053.1:p.Asp1451His
XM_006720991.3:c.4351G>C	XP_006721054.1:p.Asp1451His
XM_006720992.3:c.1984G>C	XP_006721055.1:p.Asp662His
XM_011522766.3:c.4105G>C	XP_011521068.1:p.Asp1369His
XM_011522767.2:c.3376G>C	XP_011521069.1:p.Asp1126His
XM_017023910.1:c.4351G>C	XP_016879399.1:p.Asp1451His
XM_017023911.1:c.2536G>C	XP_016879400.1:p.Asp846His
NM_014714.4:c.4351G>C MANE Select	NP_055529.2:p.Asp1451His