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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:
CA405756817
Gene: IFNL4
HGNC
NCBI
Linked Data
dbSNP Id:
rs868251918
MyVariant Identifiers:
chr19:g.39738608G>C (hg19)
chr19:g.39247968G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247968G>C , CM000681.2:g.39247968G>C
GRCh38
NC_000019.9:g.39738608G>C , CM000681.1:g.39738608G>C
GRCh37
NC_000019.8:g.44430448G>C
NCBI36
NG_042193.1:g.2004C>G
NG_055295.1:g.5889C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.179C>G
ENSP00000476098.1:p.Ala60Gly
ENST00000610963.1:c.178C>G
ENSP00000481371.1:p.Arg60Gly
ENST00000616270.4:c.179C>G
ENSP00000480679.1:p.Ala60Gly
ENST00000634680.1:c.151+461C>G
ENSP00000489240.1:n.151+461C>G
ENST00000634967.1:c.179C>G
ENSP00000489559.1:p.Ala60Gly
NR_074079.1:n.456C>G
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