Canonical Allele Identifier: CA11947064
Gene: C5orf46 HGNC NCBI
COSMIC:
COSN14831012 (not active)
MyVariant.info:
GRCh38 chr5:g.147854895G>A
GRCh37 chr5:g.147234458G>A
gnomAD v2:
5:147234458 G / A
gnomAD v3:
5:147854895 G / A
gnomAD v4:
chr5-147854895-G-A
Joint Max Group AF 0.77604674 (AFR)
Genomes Max Group AF 0.77604674 (AFR)
dbSNP:
1432982
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147854895G>A , CM000667.2:g.147854895G>A GRCh38
NC_000005.9:g.147234458G>A , CM000667.1:g.147234458G>A GRCh37
NC_000005.8:g.147214651G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017009459.1:c.261-4353C>T XP_016864948.1:n.261-4353C>T
Search 100 bp 5'
Search 100 bp 3'