Canonical Allele Identifier: CA7813128

Gene: IFT140

Linked Data

• dbSNP Id: rs558117270
• ExAC: 16:1570742 A / T
• gnomAD v2: 16-1570742-A-T
• gnomAD v3: 16-1520741-A-T
• gnomAD v4: 16-1520741-A-T
• MyVariant Identifiers: chr16:g.1570742A>T (hg19) ; chr16:g.1520741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520741A>T , CM000678.2:g.1520741A>T	GRCh38
NC_000016.9:g.1570742A>T , CM000678.1:g.1570742A>T	GRCh37
NC_000016.8:g.1510743A>T	NCBI36
NG_032783.1:g.96368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3521T>A MANE Select	ENSP00000406012.2:p.Met1174Lys
ENST00000361339.9:c.1103T>A	ENSP00000354895.5:p.Met368Lys
ENST00000397417.6:c.*1959T>A	ENSP00000380562.2:n.*1959T>A
ENST00000426508.6:c.3521T>A	ENSP00000406012.2:p.Met1174Lys
ENST00000565298.5:n.3345T>A
NM_014714.3:c.3521T>A	NP_055529.2:p.Met1174Lys
XM_006720989.2:c.3521T>A	XP_006721052.1:p.Met1174Lys
XM_006720990.2:c.3521T>A	XP_006721053.1:p.Met1174Lys
XM_006720991.2:c.3521T>A	XP_006721054.1:p.Met1174Lys
XM_006720992.2:c.1154T>A	XP_006721055.1:p.Met385Lys
XM_011522766.1:c.3275T>A	XP_011521068.1:p.Met1092Lys
XM_011522767.1:c.2546T>A	XP_011521069.1:p.Met849Lys
XM_006720990.3:c.3521T>A	XP_006721053.1:p.Met1174Lys
XM_006720991.3:c.3521T>A	XP_006721054.1:p.Met1174Lys
XM_006720992.3:c.1154T>A	XP_006721055.1:p.Met385Lys
XM_011522766.3:c.3275T>A	XP_011521068.1:p.Met1092Lys
XM_011522767.2:c.2546T>A	XP_011521069.1:p.Met849Lys
XM_017023910.1:c.3521T>A	XP_016879399.1:p.Met1174Lys
XM_017023911.1:c.1706T>A	XP_016879400.1:p.Met569Lys
NM_014714.4:c.3521T>A MANE Select	NP_055529.2:p.Met1174Lys