Canonical Allele Identifier: CA10002755
Community Standard Title: NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)
Gene: CFAP298 HGNC NCBI
CFAP298-TCP10L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32602361G>A , CM000683.2:g.32602361G>A GRCh38
NC_000021.8:g.33974671G>A , CM000683.1:g.33974671G>A GRCh37
NC_000021.7:g.32896542G>A NCBI36
NG_033839.1:g.15248C>T
NG_033839.2:g.15248C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021254.4:c.673C>T (CFAP298) MANE Select NP_067077.1:p.Gln225Ter
ENST00000290155.8:c.673C>T (CFAP298) MANE Select ENSP00000290155.3:p.Gln225Ter
NM_001350334.1:c.376C>T (CFAP298) NP_001337263.1:p.Gln126Ter
NM_001350334.2:c.376C>T (CFAP298) NP_001337263.1:p.Gln126Ter
NM_001350335.1:c.*728C>T (CFAP298) NP_001337264.1:n.*728C>T
NM_001350335.2:c.*728C>T (CFAP298) NP_001337264.1:n.*728C>T
NM_001350336.1:c.667-388C>T (CFAP298) NP_001337265.1:n.667-388C>T
NM_001350336.2:c.667-388C>T (CFAP298) NP_001337265.1:n.667-388C>T
NM_001350337.1:c.673C>T (CFAP298) NP_001337266.1:p.Gln225Ter
NM_001350337.2:c.673C>T (CFAP298) NP_001337266.1:p.Gln225Ter
NM_001350338.1:c.666+800C>T (CFAP298-TCP10L) NP_001337267.1:n.666+800C>T
NM_001350338.2:c.666+800C>T (CFAP298-TCP10L) NP_001337267.1:n.666+800C>T
NM_021254.2:c.673C>T (CFAP298) NP_067077.1:p.Gln225Ter
NM_021254.3:c.673C>T (CFAP298) NP_067077.1:p.Gln225Ter
NR_036552.1:n.965C>T (CFAP298)
NR_146638.1:n.1294+800C>T (CFAP298-TCP10L)
NR_146638.2:n.800+800C>T (CFAP298-TCP10L)
NR_146639.1:n.1294+800C>T (CFAP298-TCP10L)
NR_146639.2:n.800+800C>T (CFAP298-TCP10L)
ENST00000290155.7:c.673C>T (CFAP298) ENSP00000290155.3:p.Gln225Ter
ENST00000300260.7:c.*188C>T (CFAP298) ENSP00000300260.7:n.*188C>T
ENST00000382549.8:c.*728C>T (CFAP298) ENSP00000371989.4:n.*728C>T
ENST00000425336.1:c.215C>T (CFAP298)
ENST00000431216.5:c.576C>T (CFAP298-TCP10L)
ENST00000431599.1:c.77+800C>T (CFAP298)
ENST00000440966.5:c.667-388C>T (CFAP298) ENSP00000411467.1:n.667-388C>T
ENST00000483315.1:n.1321C>T (CFAP298)
ENST00000553001.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000446874.1:n.666+800C>T
ENST00000553001.2:c.378+800C>T (CFAP298-TCP10L) ENSP00000446874.2:n.378+800C>T
ENST00000673072.2:c.666+800C>T (CFAP298-TCP10L) ENSP00000500800.2:n.666+800C>T
ENST00000673633.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501272.1:n.666+800C>T
ENST00000673672.1:n.441+800C>T (CFAP298-TCP10L)
ENST00000673694.1:c.193+800C>T (CFAP298-TCP10L)
ENST00000673722.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501143.1:n.666+800C>T
ENST00000673727.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501061.1:n.666+800C>T
ENST00000673740.1:c.200+800C>T (CFAP298-TCP10L)
ENST00000673799.1:n.519+800C>T (CFAP298-TCP10L)
ENST00000673807.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501088.1:n.666+800C>T
ENST00000673870.1:c.209+1764C>T (CFAP298-TCP10L)
ENST00000673879.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000500977.1:n.666+800C>T
ENST00000673900.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501184.1:n.666+800C>T
ENST00000673945.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501020.1:n.666+800C>T
ENST00000673979.1:n.434+800C>T (CFAP298-TCP10L)
ENST00000673984.1:c.52+800C>T (CFAP298-TCP10L)
ENST00000673985.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000500984.1:n.666+800C>T
ENST00000674025.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501264.1:n.666+800C>T
ENST00000674042.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501000.1:n.666+800C>T
ENST00000674072.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501221.1:n.666+800C>T
ENST00000674122.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501276.1:n.666+800C>T
ENST00000674123.1:c.666+800C>T (CFAP298-TCP10L) ENSP00000501038.1:n.666+800C>T