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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:
CA16602248
Gene: NRAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40471
ClinVar RCV Id:
RCV000445167
dbSNP Id:
rs121434595
gnomAD v4:
1-114716124-C-A
COSMIC:
COSM570
MyVariant Identifiers:
chr1:g.115258745C>A (hg19)
chr1:g.114716124C>A (hg38)
CIViC:
CA16602248
PubMed:
PMID:2674680
PMID:8120410
PMID:16291983
PMID:18390968
PMID:20130576
PMID:20179705
PMID:23414587
PMID:25157968
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.114716124C>A , CM000663.2:g.114716124C>A
GRCh38
NC_000001.10:g.115258745C>A , CM000663.1:g.115258745C>A
GRCh37
NC_000001.9:g.115060268C>A
NCBI36
NG_007572.1:g.5771G>T , LRG_92:g.5771G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000369535.5:c.37G>T
MANE Select
ENSP00000358548.4:p.Gly13Cys
ENST00000369535.4:c.37G>T
ENSP00000358548.4:p.Gly13Cys
NM_002524.4:c.37G>T
NP_002515.1:p.Gly13Cys
NM_002524.5:c.37G>T
MANE Select
NP_002515.1:p.Gly13Cys
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