Canonical Allele Identifier: CA2068173064
Gene: CFAP251 HGNC NCBI

Linked Data

dbSNP Id: rs1880470521
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121927597C>T , CM000674.2:g.121927597C>T GRCh38
NC_000012.11:g.122365503C>T , CM000674.1:g.122365503C>T GRCh37
NC_000012.10:g.120849886C>T NCBI36
NG_021364.1:g.14041C>T
NG_021364.2:g.14041C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000288912.9:c.747+3607C>T MANE Select ENSP00000288912.4:n.747+3607C>T
ENST00000288912.8:c.747+3607C>T ENSP00000288912.4:n.747+3607C>T
ENST00000397454.2:c.747+3607C>T ENSP00000380595.2:n.747+3607C>T
ENST00000540779.1:n.645+3607C>T
NM_001178003.1:c.747+3607C>T NP_001171474.1:n.747+3607C>T
NM_144668.5:c.747+3607C>T NP_653269.3:n.747+3607C>T
NM_144668.6:c.747+3607C>T MANE Select NP_653269.3:n.747+3607C>T
NM_001178003.2:c.747+3607C>T NP_001171474.1:n.747+3607C>T
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