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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA405756535
Gene: IFNL4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.39738490G>A (hg19)
chr19:g.39247850G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247850G>A , CM000681.2:g.39247850G>A
GRCh38
NC_000019.9:g.39738490G>A , CM000681.1:g.39738490G>A
GRCh37
NC_000019.8:g.44430330G>A
NCBI36
NG_042193.1:g.2122C>T
NG_055295.1:g.6007C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.225C>T
ENSP00000476098.1:p.Val75=
ENST00000610963.1:c.224C>T
ENSP00000481371.1:p.Ser75Phe
ENST00000616270.4:c.223+74C>T
ENSP00000480679.1:n.223+74C>T
ENST00000634680.1:c.152-387C>T
ENSP00000489240.1:n.152-387C>T
ENST00000634967.1:c.223+74C>T
ENSP00000489559.1:n.223+74C>T
NR_074079.1:n.502C>T
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