Canonical Allele Identifier: CA2068173057
Gene: CFAP251 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121927592C= , CM000674.2:g.121927592C= GRCh38
NC_000012.11:g.122365498C= , CM000674.1:g.122365498C= GRCh37
NC_000012.10:g.120849881C= NCBI36
NG_021364.1:g.14036C=
NG_021364.2:g.14036C=

Transcript Alleles

HGVS Amino-acid change
ENST00000288912.9:c.747+3602C= MANE Select ENSP00000288912.4:n.747+3602C=
ENST00000288912.8:c.747+3602C= ENSP00000288912.4:n.747+3602C=
ENST00000397454.2:c.747+3602C= ENSP00000380595.2:n.747+3602C=
ENST00000540779.1:n.645+3602C=
NM_001178003.1:c.747+3602C= NP_001171474.1:n.747+3602C=
NM_144668.5:c.747+3602C= NP_653269.3:n.747+3602C=
NM_144668.6:c.747+3602C= MANE Select NP_653269.3:n.747+3602C=
NM_001178003.2:c.747+3602C= NP_001171474.1:n.747+3602C=
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