Canonical Allele Identifier: CA371838253
Gene: CFAP418 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.96259931C>G (hg19) chr8:g.95247703C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247703C>G , CM000670.2:g.95247703C>G GRCh38
NC_000008.10:g.96259931C>G , CM000670.1:g.96259931C>G GRCh37
NC_000008.9:g.96329107C>G NCBI36
NG_032804.1:g.26532G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.538G>C MANE Select ENSP00000286688.5:p.Ala180Pro
ENST00000286688.5:c.538G>C ENSP00000286688.5:p.Ala180Pro
NM_177965.3:c.538G>C NP_808880.1:p.Ala180Pro
XM_005250799.2:c.781G>C XP_005250856.2:p.Ala261Pro
NM_001363260.1:c.442G>C NP_001350189.1:p.Ala148Pro
NM_177965.4:c.538G>C MANE Select NP_808880.1:p.Ala180Pro
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