Canonical Allele Identifier: CA14654232
Gene: NFILZ HGNC NCBI

Linked Data

dbSNP Id: rs12151343
gnomAD v2: 19-8789773-C-T
gnomAD v3: 19-8679509-C-T
gnomAD v4: 19-8679509-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8679509C>T , CM000681.2:g.8679509C>T GRCh38
NC_000019.9:g.8789773C>T , CM000681.1:g.8789773C>T GRCh37
NC_000019.8:g.8650773C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000570582.4:c.*1874C>T ENSP00000500121.1:n.*1874C>T
ENST00000671902.2:c.*1874C>T ENSP00000500604.1:n.*1874C>T
ENST00000673603.2:c.*1874C>T ENSP00000499970.1:n.*1874C>T
ENST00000691075.1:c.*1874C>T MANE Select ENSP00000509575.1:n.*1874C>T
NM_001378599.1:c.*1874C>T NP_001365528.1:n.*1874C>T
NM_001378600.1:c.*1874C>T MANE Select NP_001365529.1:n.*1874C>T
NM_001378601.1:c.*1874C>T NP_001365530.1:n.*1874C>T