Canonical Allele Identifier: CA7814601

Gene: IFT140

Linked Data

• dbSNP Id: rs768368027
• ExAC: 16:1639716 G / C
• gnomAD v2: 16-1639716-G-C
• gnomAD v4: 16-1589715-G-C
• MyVariant Identifiers: chr16:g.1639716G>C (hg19) ; chr16:g.1589715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1589715G>C , CM000678.2:g.1589715G>C	GRCh38
NC_000016.9:g.1639716G>C , CM000678.1:g.1639716G>C	GRCh37
NC_000016.8:g.1579717G>C	NCBI36
NG_032783.1:g.27394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.700C>G MANE Select	ENSP00000406012.2:p.Gln234Glu
ENST00000397417.6:c.329-5295C>G	ENSP00000380562.2:n.329-5295C>G
ENST00000426508.6:c.700C>G	ENSP00000406012.2:p.Gln234Glu
ENST00000439987.6:n.761C>G
NM_014714.3:c.700C>G	NP_055529.2:p.Gln234Glu
XM_005255725.3:c.700C>G	XP_005255782.1:p.Gln234Glu
XM_005255726.2:c.700C>G	XP_005255783.1:p.Gln234Glu
XM_006720989.2:c.700C>G	XP_006721052.1:p.Gln234Glu
XM_006720990.2:c.700C>G	XP_006721053.1:p.Gln234Glu
XM_006720991.2:c.700C>G	XP_006721054.1:p.Gln234Glu
XM_011522766.1:c.700C>G	XP_011521068.1:p.Gln234Glu
XM_011522768.1:c.700C>G	XP_011521070.1:p.Gln234Glu
XM_011522769.1:c.700C>G	XP_011521071.1:p.Gln234Glu
XM_011522771.1:c.700C>G	XP_011521073.1:p.Gln234Glu
XM_011522772.1:c.700C>G	XP_011521074.1:p.Gln234Glu
NR_135176.1:n.59+9130G>C
XM_005255725.5:c.700C>G	XP_005255782.1:p.Gln234Glu
XM_005255726.4:c.700C>G	XP_005255783.1:p.Gln234Glu
XM_006720990.3:c.700C>G	XP_006721053.1:p.Gln234Glu
XM_006720991.3:c.700C>G	XP_006721054.1:p.Gln234Glu
XM_011522766.3:c.700C>G	XP_011521068.1:p.Gln234Glu
XM_011522769.3:c.700C>G	XP_011521071.1:p.Gln234Glu
XM_011522771.3:c.700C>G	XP_011521073.1:p.Gln234Glu
XM_011522772.3:c.700C>G	XP_011521074.1:p.Gln234Glu
XM_017023910.1:c.700C>G	XP_016879399.1:p.Gln234Glu
XM_017023911.1:c.-998C>G	XP_016879400.1:n.-998C>G
NM_014714.4:c.700C>G MANE Select	NP_055529.2:p.Gln234Glu