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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:
CA405756832
Gene: IFNL4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1185015956
gnomAD v2:
19-39738611-G-C
gnomAD v3:
19-39247971-G-C
gnomAD v4:
19-39247971-G-C
MyVariant Identifiers:
chr19:g.39738611G>C (hg19)
chr19:g.39247971G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39247971G>C , CM000681.2:g.39247971G>C
GRCh38
NC_000019.9:g.39738611G>C , CM000681.1:g.39738611G>C
GRCh37
NC_000019.8:g.44430451G>C
NCBI36
NG_042193.1:g.2001C>G
NG_055295.1:g.5886C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000606380.2:c.176C>G
ENSP00000476098.1:p.Ala59Gly
ENST00000610963.1:c.175C>G
ENSP00000481371.1:p.Gln59Glu
ENST00000616270.4:c.176C>G
ENSP00000480679.1:p.Ala59Gly
ENST00000634680.1:c.151+458C>G
ENSP00000489240.1:n.151+458C>G
ENST00000634967.1:c.176C>G
ENSP00000489559.1:p.Ala59Gly
NR_074079.1:n.453C>G
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