Canonical Allele Identifier: CA7813031

Gene: IFT140

Linked Data

• dbSNP Id: rs772312770
• ExAC: 16:1570181 T / G
• gnomAD v2: 16-1570181-T-G
• gnomAD v4: 16-1520180-T-G
• MyVariant Identifiers: chr16:g.1570181T>G (hg19) ; chr16:g.1520180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520180T>G , CM000678.2:g.1520180T>G	GRCh38
NC_000016.9:g.1570181T>G , CM000678.1:g.1570181T>G	GRCh37
NC_000016.8:g.1510182T>G	NCBI36
NG_032783.1:g.96929A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3824A>C MANE Select	ENSP00000406012.2:p.Lys1275Thr
ENST00000361339.9:c.1406A>C	ENSP00000354895.5:p.Lys469Thr
ENST00000397417.6:c.*2262A>C	ENSP00000380562.2:n.*2262A>C
ENST00000426508.6:c.3824A>C	ENSP00000406012.2:p.Lys1275Thr
ENST00000565298.5:n.3648A>C
NM_014714.3:c.3824A>C	NP_055529.2:p.Lys1275Thr
XM_006720989.2:c.3824A>C	XP_006721052.1:p.Lys1275Thr
XM_006720990.2:c.3824A>C	XP_006721053.1:p.Lys1275Thr
XM_006720991.2:c.3824A>C	XP_006721054.1:p.Lys1275Thr
XM_006720992.2:c.1457A>C	XP_006721055.1:p.Lys486Thr
XM_011522766.1:c.3578A>C	XP_011521068.1:p.Lys1193Thr
XM_011522767.1:c.2849A>C	XP_011521069.1:p.Lys950Thr
XM_006720990.3:c.3824A>C	XP_006721053.1:p.Lys1275Thr
XM_006720991.3:c.3824A>C	XP_006721054.1:p.Lys1275Thr
XM_006720992.3:c.1457A>C	XP_006721055.1:p.Lys486Thr
XM_011522766.3:c.3578A>C	XP_011521068.1:p.Lys1193Thr
XM_011522767.2:c.2849A>C	XP_011521069.1:p.Lys950Thr
XM_017023910.1:c.3824A>C	XP_016879399.1:p.Lys1275Thr
XM_017023911.1:c.2009A>C	XP_016879400.1:p.Lys670Thr
NM_014714.4:c.3824A>C MANE Select	NP_055529.2:p.Lys1275Thr