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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:
CA431406249
Gene: CXCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1238124483
gnomAD v3:
2-218164270-A-G
gnomAD v4:
2-218164270-A-G
MyVariant Identifiers:
chr2:g.219028993A>G (hg19)
chr2:g.218164270A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.218164270A>G , CM000664.2:g.218164270A>G
GRCh38
NC_000002.11:g.219028993A>G , CM000664.1:g.219028993A>G
GRCh37
NC_000002.10:g.218737238A>G
NCBI36
NG_011814.1:g.7724T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295683.3:c.942T>C
MANE Select
ENSP00000295683.2:p.His314=
ENST00000295683.2:c.942T>C
ENSP00000295683.2:p.His314=
NM_000634.2:c.942T>C
NP_000625.1:p.His314=
NM_000634.3:c.942T>C
MANE Select
NP_000625.1:p.His314=
Search 100 bp 5'
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