Canonical Allele Identifier: CA5120121
Gene: NFIL3 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.91410299C>A
GRCh37 chr9:g.94172581C>A
Revel Score:
ENST00000375724 0.072
ENST00000297689 (MANE Select) 0.072
gnomAD v2:
9:94172581 C / A
gnomAD v3:
9:91410299 C / A
gnomAD v4:
chr9-91410299-C-A
Joint Max Group AF 0.00062506 (AFR)
Genomes Max Group AF 0.00014833 (AFR)
Exomes Max Group AF 0.00111048 (AFR)
ClinVar RCV:
RCV004207485
ClinVar Variation:
2369783
dbSNP:
138611038
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91410299C>A , CM000671.2:g.91410299C>A GRCh38
NC_000009.11:g.94172581C>A , CM000671.1:g.94172581C>A GRCh37
NC_000009.10:g.93212402C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297689.4:c.436G>T MANE Select ENSP00000297689.2:p.Ala146Ser
ENST00000297689.3:c.436G>T ENSP00000297689.2:p.Ala146Ser
NM_001289999.1:c.436G>T NP_001276928.1:p.Ala146Ser
NM_001290000.1:c.436G>T NP_001276929.1:p.Ala146Ser
NM_005384.2:c.436G>T NP_005375.2:p.Ala146Ser
XM_017014743.1:c.436G>T XP_016870232.1:p.Ala146Ser
XM_017014744.1:c.436G>T XP_016870233.1:p.Ala146Ser
NM_005384.3:c.436G>T MANE Select NP_005375.2:p.Ala146Ser
NM_001289999.2:c.436G>T NP_001276928.1:p.Ala146Ser
NM_001290000.2:c.436G>T NP_001276929.1:p.Ala146Ser
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