Canonical Allele Identifier: CA4815099
Gene: CFAP418 HGNC NCBI

Linked Data

dbSNP Id: rs772602519
ExAC: 8:96259840 C / T
gnomAD v2: 8-96259840-C-T
gnomAD v3: 8-95247612-C-T
gnomAD v4: 8-95247612-C-T
MyVariant Identifiers: chr8:g.96259840C>T (hg19) chr8:g.95247612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95247612C>T , CM000670.2:g.95247612C>T GRCh38
NC_000008.10:g.96259840C>T , CM000670.1:g.96259840C>T GRCh37
NC_000008.9:g.96329016C>T NCBI36
NG_032804.1:g.26623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286688.6:c.*5G>A MANE Select ENSP00000286688.5:n.*5G>A
ENST00000286688.5:c.*5G>A ENSP00000286688.5:n.*5G>A
NM_177965.3:c.*5G>A NP_808880.1:n.*5G>A
XM_005250799.2:c.*5G>A XP_005250856.2:n.*5G>A
NM_001363260.1:c.*5G>A NP_001350189.1:n.*5G>A
NM_177965.4:c.*5G>A MANE Select NP_808880.1:n.*5G>A
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