ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA308189333
Gene: IFNL4
HGNC
NCBI
Linked Data
dbSNP Id:
rs575300382
gnomAD v2:
19-39738372-G-A
gnomAD v3:
19-39247732-G-A
gnomAD v4:
19-39247732-G-A
MyVariant Identifiers:
chr19:g.39738372G>A (hg19)
chr19:g.39247732G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247732G>A , CM000681.2:g.39247732G>A
GRCh38
NC_000019.9:g.39738372G>A , CM000681.1:g.39738372G>A
GRCh37
NC_000019.8:g.44430212G>A
NCBI36
NG_042193.1:g.2240C>T
NG_055295.1:g.6125C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000606380.2:c.343C>T
ENSP00000476098.1:p.Arg115Cys
ENST00000610963.1:c.342C>T
ENSP00000481371.1:p.Ala114=
ENST00000616270.4:c.224-66C>T
ENSP00000480679.1:n.224-66C>T
ENST00000634680.1:c.152-269C>T
ENSP00000489240.1:n.152-269C>T
ENST00000634967.1:c.223+192C>T
ENSP00000489559.1:n.223+192C>T
NR_074079.1:n.620C>T
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