Canonical Allele Identifier: CA462360802
Gene: CFAP418 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.96259848A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247620A>G , CM000670.2:g.95247620A>G GRCh38
NC_000008.10:g.96259848A>G , CM000670.1:g.96259848A>G GRCh37
NC_000008.9:g.96329024A>G NCBI36
NG_032804.1:g.26615T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.621T>C MANE Select ENSP00000286688.5:p.His207=
ENST00000286688.5:c.621T>C ENSP00000286688.5:p.His207=
NM_177965.3:c.621T>C NP_808880.1:p.His207=
XM_005250799.2:c.864T>C XP_005250856.2:p.His288=
NM_001363260.1:c.525T>C NP_001350189.1:p.His175=
NM_177965.4:c.621T>C MANE Select NP_808880.1:p.His207=
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