Canonical Allele Identifier: CA9426041
Gene: IFNL3 HGNC NCBI
COSMIC:
COSM4131799 (not active)
MyVariant.info:
GRCh38 chr19:g.39244466T>C
GRCh37 chr19:g.39735106T>C
Revel Score:
ENST00000413851 (MANE Select) 0.005
gnomAD v2:
19:39735106 T / C
gnomAD v3:
19:39244466 T / C
gnomAD v4:
chr19-39244466-T-C
Joint Max Group AF 0.62792448 (AFR)
Genomes Max Group AF 0.62241438 (AFR)
Exomes Max Group AF 0.63047342 (AFR)
ClinVar RCV:
RCV000612255
ClinVar Variation:
511091
dbSNP:
8103142
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39244466T>C , CM000681.2:g.39244466T>C GRCh38
NC_000019.9:g.39735106T>C , CM000681.1:g.39735106T>C GRCh37
NC_000019.8:g.44426946T>C NCBI36
NG_042193.1:g.5506A>G
NG_055295.1:g.9391A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000613087.5:c.221A>G ENSP00000481633.1:p.Lys74Arg
ENST00000413851.3:c.209A>G MANE Select ENSP00000409000.2:p.Lys70Arg
ENST00000413851.2:c.209A>G ENSP00000409000.2:p.Lys70Arg
ENST00000613087.4:c.221A>G ENSP00000481633.1:p.Lys74Arg
NM_172139.2:c.209A>G NP_742151.2:p.Lys70Arg
XM_005258765.3:c.221A>G XP_005258822.1:p.Lys74Arg
XM_011526757.1:c.221A>G XP_011525059.1:p.Lys74Arg
NM_001346937.1:c.221A>G NP_001333866.1:p.Lys74Arg
NM_172139.3:c.209A>G NP_742151.2:p.Lys70Arg
NM_172139.4:c.209A>G MANE Select NP_742151.2:p.Lys70Arg
NM_001346937.2:c.221A>G NP_001333866.1:p.Lys74Arg
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