Canonical Allele Identifier: CA2102098
Gene: CXCR1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218165120A>C
GRCh37 chr2:g.219029843A>C
Revel Score:
ENST00000295683 (MANE Select) 0.163
ENST00000421691 0.163
gnomAD v2:
2:219029843 A / C
gnomAD v3:
2:218165120 A / C
gnomAD v4:
chr2-218165120-A-C
Joint Max Group AF 0.05426427 (AFR)
Genomes Max Group AF 0.05361692 (AFR)
Exomes Max Group AF 0.05377534 (AFR)
dbSNP:
16858811
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218165120A>C , CM000664.2:g.218165120A>C GRCh38
NC_000002.11:g.219029843A>C , CM000664.1:g.219029843A>C GRCh37
NC_000002.10:g.218738088A>C NCBI36
NG_011814.1:g.6874T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295683.3:c.92T>G MANE Select ENSP00000295683.2:p.Met31Arg
ENST00000295683.2:c.92T>G ENSP00000295683.2:p.Met31Arg
NM_000634.2:c.92T>G NP_000625.1:p.Met31Arg
NM_000634.3:c.92T>G MANE Select NP_000625.1:p.Met31Arg
Search 100 bp 5'
Search 100 bp 3'