Canonical Allele Identifier: CA123717
Gene: CXCR4 HGNC NCBI

Linked Data

ClinVar Variation Id: 14023
ClinVar RCV Id: RCV001568992 RCV001801240
dbSNP Id: rs104893626
COSMIC: COSM5981986
MyVariant Identifiers: chr2:g.136872485G>C (hg19) chr2:g.136114915G>C (hg38)
PubMed: PMID:15536153 PMID:18436740
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.136114915G>C , CM000664.2:g.136114915G>C GRCh38
NC_000002.11:g.136872485G>C , CM000664.1:g.136872485G>C GRCh37
NC_000002.10:g.136588955G>C NCBI36
NG_011587.1:g.8241C>G , LRG_51:g.8241C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696136.1:c.1001C>G ENSP00000512428.1:p.Ser334Ter
ENST00000696137.1:c.968C>G ENSP00000512429.1:p.Ser323Ter
ENST00000696152.1:c.968C>G ENSP00000512443.1:p.Ser323Ter
ENST00000696228.1:c.1001C>G ENSP00000512494.1:p.Ser334Ter
ENST00000241393.4:c.1013C>G MANE Select ENSP00000241393.3:p.Ser338Ter
ENST00000241393.3:c.1013C>G ENSP00000241393.3:p.Ser338Ter
ENST00000409817.1:c.1025C>G ENSP00000386884.1:p.Ser342Ter
ENST00000466288.1:n.1207C>G
NM_001008540.1:c.1025C>G NP_001008540.1:p.Ser342Ter
NM_003467.2:c.1013C>G , LRG_51t1:c.1013C>G NP_003458.1:p.Ser338Ter
NM_001008540.2:c.1025C>G NP_001008540.1:p.Ser342Ter
NM_001348056.1:c.1226C>G NP_001334985.1:p.Ser409Ter
NM_001348059.1:c.1112C>G NP_001334988.1:p.Ser371Ter
NM_001348060.1:c.968C>G NP_001334989.1:p.Ser323Ter
NM_001348056.2:c.1226C>G NP_001334985.1:p.Ser409Ter
NM_001348059.2:c.1112C>G NP_001334988.1:p.Ser371Ter
NM_001348060.2:c.968C>G NP_001334989.1:p.Ser323Ter
NM_003467.3:c.1013C>G MANE Select NP_003458.1:p.Ser338Ter
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