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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:
CA2101904
Gene: CXCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3039805
ClinVar RCV Id:
RCV003931822
dbSNP Id:
rs61752206
ExAC:
2:219028997 C / T
gnomAD v2:
2-219028997-C-T
gnomAD v3:
2-218164274-C-T
gnomAD v4:
2-218164274-C-T
MyVariant Identifiers:
chr2:g.219028997C>T (hg19)
chr2:g.218164274C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218164274C>T , CM000664.2:g.218164274C>T
GRCh38
NC_000002.11:g.219028997C>T , CM000664.1:g.219028997C>T
GRCh37
NC_000002.10:g.218737242C>T
NCBI36
NG_011814.1:g.7720G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000295683.3:c.938G>A
MANE Select
ENSP00000295683.2:p.Arg313His
ENST00000295683.2:c.938G>A
ENSP00000295683.2:p.Arg313His
NM_000634.2:c.938G>A
NP_000625.1:p.Arg313His
NM_000634.3:c.938G>A
MANE Select
NP_000625.1:p.Arg313His
Search 100 bp 5'
Search 100 bp 3'