Canonical Allele Identifier: CA684565917
Gene: CFAP251 HGNC NCBI

Linked Data

dbSNP Id: rs1353330966
MyVariant Identifiers: chr12:g.122365623G>A (hg19) chr12:g.121927717G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121927717G>A , CM000674.2:g.121927717G>A GRCh38
NC_000012.11:g.122365623G>A , CM000674.1:g.122365623G>A GRCh37
NC_000012.10:g.120850006G>A NCBI36
NG_021364.1:g.14161G>A
NG_021364.2:g.14161G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000288912.9:c.747+3727G>A MANE Select ENSP00000288912.4:n.747+3727G>A
ENST00000288912.8:c.747+3727G>A ENSP00000288912.4:n.747+3727G>A
ENST00000397454.2:c.747+3727G>A ENSP00000380595.2:n.747+3727G>A
ENST00000540779.1:n.645+3727G>A
NM_001178003.1:c.747+3727G>A NP_001171474.1:n.747+3727G>A
NM_144668.5:c.747+3727G>A NP_653269.3:n.747+3727G>A
NM_144668.6:c.747+3727G>A MANE Select NP_653269.3:n.747+3727G>A
NM_001178003.2:c.747+3727G>A NP_001171474.1:n.747+3727G>A
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