Canonical Allele Identifier: CA2068173062

Gene: CFAP251

Linked Data

• dbSNP Id: rs1880470301

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121927595C>G , CM000674.2:g.121927595C>G	GRCh38
NC_000012.11:g.122365501C>G , CM000674.1:g.122365501C>G	GRCh37
NC_000012.10:g.120849884C>G	NCBI36
NG_021364.1:g.14039C>G
NG_021364.2:g.14039C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000288912.9:c.747+3605C>G MANE Select	ENSP00000288912.4:n.747+3605C>G
ENST00000288912.8:c.747+3605C>G	ENSP00000288912.4:n.747+3605C>G
ENST00000397454.2:c.747+3605C>G	ENSP00000380595.2:n.747+3605C>G
ENST00000540779.1:n.645+3605C>G
NM_001178003.1:c.747+3605C>G	NP_001171474.1:n.747+3605C>G
NM_144668.5:c.747+3605C>G	NP_653269.3:n.747+3605C>G
NM_144668.6:c.747+3605C>G MANE Select	NP_653269.3:n.747+3605C>G
NM_001178003.2:c.747+3605C>G	NP_001171474.1:n.747+3605C>G