Canonical Allele Identifier: CA7814525

Gene: IFT140

Linked Data

• ClinVar Variation Id: 318200
• ClinVar RCV Id: RCV000281495 ; RCV003165857 ; RCV002487403
• dbSNP Id: rs145858131
• ExAC: 16:1637969 G / C
• gnomAD v2: 16-1637969-G-C
• gnomAD v3: 16-1587968-G-C
• gnomAD v4: 16-1587968-G-C
• MyVariant Identifiers: chr16:g.1637969G>C (hg19) ; chr16:g.1587968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1587968G>C , CM000678.2:g.1587968G>C	GRCh38
NC_000016.9:g.1637969G>C , CM000678.1:g.1637969G>C	GRCh37
NC_000016.8:g.1577970G>C	NCBI36
NG_032783.1:g.29141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.867C>G MANE Select	ENSP00000406012.2:p.Ser289Arg
ENST00000397417.6:c.329-3548C>G	ENSP00000380562.2:n.329-3548C>G
ENST00000426508.6:c.867C>G	ENSP00000406012.2:p.Ser289Arg
ENST00000439987.6:n.928C>G
NM_014714.3:c.867C>G	NP_055529.2:p.Ser289Arg
XM_005255725.3:c.867C>G	XP_005255782.1:p.Ser289Arg
XM_005255726.2:c.867C>G	XP_005255783.1:p.Ser289Arg
XM_006720989.2:c.867C>G	XP_006721052.1:p.Ser289Arg
XM_006720990.2:c.867C>G	XP_006721053.1:p.Ser289Arg
XM_006720991.2:c.867C>G	XP_006721054.1:p.Ser289Arg
XM_011522766.1:c.867C>G	XP_011521068.1:p.Ser289Arg
XM_011522768.1:c.867C>G	XP_011521070.1:p.Ser289Arg
XM_011522769.1:c.867C>G	XP_011521071.1:p.Ser289Arg
XM_011522771.1:c.867C>G	XP_011521073.1:p.Ser289Arg
XM_011522772.1:c.867C>G	XP_011521074.1:p.Ser289Arg
NR_135176.1:n.59+7383G>C
XM_005255725.5:c.867C>G	XP_005255782.1:p.Ser289Arg
XM_005255726.4:c.867C>G	XP_005255783.1:p.Ser289Arg
XM_006720990.3:c.867C>G	XP_006721053.1:p.Ser289Arg
XM_006720991.3:c.867C>G	XP_006721054.1:p.Ser289Arg
XM_011522766.3:c.867C>G	XP_011521068.1:p.Ser289Arg
XM_011522769.3:c.867C>G	XP_011521071.1:p.Ser289Arg
XM_011522771.3:c.867C>G	XP_011521073.1:p.Ser289Arg
XM_011522772.3:c.867C>G	XP_011521074.1:p.Ser289Arg
XM_017023910.1:c.867C>G	XP_016879399.1:p.Ser289Arg
XM_017023911.1:c.-831C>G	XP_016879400.1:n.-831C>G
NM_014714.4:c.867C>G MANE Select	NP_055529.2:p.Ser289Arg