Canonical Allele Identifier: CA14654231
Gene: NFILZ HGNC NCBI
COSMIC:
COSN24356846 (not active)
MyVariant.info:
GRCh38 chr19:g.8679458A>G
GRCh37 chr19:g.8789722A>G
gnomAD v2:
19:8789722 A / G
gnomAD v3:
19:8679458 A / G
gnomAD v4:
chr19-8679458-A-G
Joint Max Group AF 0.23128405 (AMR)
Genomes Max Group AF 0.23128405 (AMR)
dbSNP:
2918307
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8679458A>G , CM000681.2:g.8679458A>G GRCh38
NC_000019.9:g.8789722A>G , CM000681.1:g.8789722A>G GRCh37
NC_000019.8:g.8650722A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000570582.4:c.*1823A>G ENSP00000500121.1:n.*1823A>G
ENST00000671902.2:c.*1823A>G ENSP00000500604.1:n.*1823A>G
ENST00000673603.2:c.*1823A>G ENSP00000499970.1:n.*1823A>G
ENST00000691075.1:c.*1823A>G MANE Select ENSP00000509575.1:n.*1823A>G
NM_001378599.1:c.*1823A>G NP_001365528.1:n.*1823A>G
NM_001378600.1:c.*1823A>G MANE Select NP_001365529.1:n.*1823A>G
NM_001378601.1:c.*1823A>G NP_001365530.1:n.*1823A>G
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