Canonical Allele Identifier: CA348659516
Gene: CXCR4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.136115583G>C
GRCh37 chr2:g.136873153G>C
Revel Score:
ENST00000409817 0.242
ENST00000241393 (MANE Select) 0.242
ENST00000537957 0.086
gnomAD v3:
2:136115583 G / C
gnomAD v4:
chr2-136115583-G-C
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00002259 (AMR)
ClinVar RCV:
RCV001993043
ClinVar Variation:
1450988
dbSNP:
1051557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.136115583G>C , CM000664.2:g.136115583G>C GRCh38
NC_000002.11:g.136873153G>C , CM000664.1:g.136873153G>C GRCh37
NC_000002.10:g.136589623G>C NCBI36
NG_011587.1:g.7573C>G , LRG_51:g.7573C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696136.1:c.333C>G ENSP00000512428.1:p.Ile111Met
ENST00000696137.1:c.300C>G ENSP00000512429.1:p.Ile100Met
ENST00000696152.1:c.300C>G ENSP00000512443.1:p.Ile100Met
ENST00000696228.1:c.333C>G ENSP00000512494.1:p.Ile111Met
ENST00000241393.4:c.345C>G MANE Select ENSP00000241393.3:p.Ile115Met
ENST00000241393.3:c.345C>G ENSP00000241393.3:p.Ile115Met
ENST00000409817.1:c.357C>G ENSP00000386884.1:p.Ile119Met
ENST00000466288.1:n.539C>G
NM_001008540.1:c.357C>G NP_001008540.1:p.Ile119Met
NM_003467.2:c.345C>G , LRG_51t1:c.345C>G NP_003458.1:p.Ile115Met
NM_001008540.2:c.357C>G NP_001008540.1:p.Ile119Met
NM_001348056.1:c.558C>G NP_001334985.1:p.Ile186Met
NM_001348059.1:c.444C>G NP_001334988.1:p.Ile148Met
NM_001348060.1:c.300C>G NP_001334989.1:p.Ile100Met
NM_001348056.2:c.558C>G NP_001334985.1:p.Ile186Met
NM_001348059.2:c.444C>G NP_001334988.1:p.Ile148Met
NM_001348060.2:c.300C>G NP_001334989.1:p.Ile100Met
NM_003467.3:c.345C>G MANE Select NP_003458.1:p.Ile115Met
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