Canonical Allele Identifier: CA394216724

Gene: IFT140

Linked Data

• ClinVar Variation Id: 446313
• ClinVar RCV Id: RCV000515582
• dbSNP Id: rs1441549097
• gnomAD v2: 16-1637223-A-G
• gnomAD v3: 16-1587222-A-G
• gnomAD v4: 16-1587222-A-G
• MyVariant Identifiers: chr16:g.1637223A>G (hg19) ; chr16:g.1587222A>G (hg38)
• PubMed: PMID:26216056

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1587222A>G , CM000678.2:g.1587222A>G	GRCh38
NC_000016.9:g.1637223A>G , CM000678.1:g.1637223A>G	GRCh37
NC_000016.8:g.1577224A>G	NCBI36
NG_032783.1:g.29887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.985T>C MANE Select	ENSP00000406012.2:p.Cys329Arg
ENST00000397417.6:c.329-2802T>C	ENSP00000380562.2:n.329-2802T>C
ENST00000426508.6:c.985T>C	ENSP00000406012.2:p.Cys329Arg
ENST00000439987.6:n.1046T>C
NM_014714.3:c.985T>C	NP_055529.2:p.Cys329Arg
XM_005255725.3:c.985T>C	XP_005255782.1:p.Cys329Arg
XM_005255726.2:c.985T>C	XP_005255783.1:p.Cys329Arg
XM_006720989.2:c.985T>C	XP_006721052.1:p.Cys329Arg
XM_006720990.2:c.985T>C	XP_006721053.1:p.Cys329Arg
XM_006720991.2:c.985T>C	XP_006721054.1:p.Cys329Arg
XM_011522766.1:c.985T>C	XP_011521068.1:p.Cys329Arg
XM_011522768.1:c.985T>C	XP_011521070.1:p.Cys329Arg
XM_011522769.1:c.985T>C	XP_011521071.1:p.Cys329Arg
XM_011522771.1:c.985T>C	XP_011521073.1:p.Cys329Arg
XM_011522772.1:c.985T>C	XP_011521074.1:p.Cys329Arg
NR_135176.1:n.59+6637A>G
XM_005255725.5:c.985T>C	XP_005255782.1:p.Cys329Arg
XM_005255726.4:c.985T>C	XP_005255783.1:p.Cys329Arg
XM_006720990.3:c.985T>C	XP_006721053.1:p.Cys329Arg
XM_006720991.3:c.985T>C	XP_006721054.1:p.Cys329Arg
XM_011522766.3:c.985T>C	XP_011521068.1:p.Cys329Arg
XM_011522769.3:c.985T>C	XP_011521071.1:p.Cys329Arg
XM_011522771.3:c.985T>C	XP_011521073.1:p.Cys329Arg
XM_011522772.3:c.985T>C	XP_011521074.1:p.Cys329Arg
XM_017023910.1:c.985T>C	XP_016879399.1:p.Cys329Arg
XM_017023911.1:c.-713T>C	XP_016879400.1:n.-713T>C
NM_014714.4:c.985T>C MANE Select	NP_055529.2:p.Cys329Arg