Canonical Allele Identifier: CA15646964
Gene: CXCL12 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.44372809C>T
GRCh37 chr10:g.44868257C>T
gnomAD v2:
10:44868257 C / T
gnomAD v3:
10:44372809 C / T
gnomAD v4:
chr10-44372809-C-T
Joint Max Group AF 0.29129023 (EAS)
Genomes Max Group AF 0.25786825 (EAS)
Exomes Max Group AF 0.29474602 (EAS)
ClinVar RCV:
RCV001715710
ClinVar Variation:
1291069
dbSNP:
1801157
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.44372809C>T , CM000672.2:g.44372809C>T GRCh38
NC_000010.10:g.44868257C>T , CM000672.1:g.44868257C>T GRCh37
NC_000010.9:g.44188263C>T NCBI36
NG_016861.1:g.17289G>A
NG_016861.2:g.17289G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374429.6:c.*519G>A ENSP00000363551.2:n.*519G>A
ENST00000395793.7:c.*79G>A ENSP00000379139.3:n.*79G>A
NM_000609.6:c.*519G>A NP_000600.1:n.*519G>A
NM_001277990.1:c.*79G>A NP_001264919.1:n.*79G>A
XR_001747171.1:n.331+5828G>A
XR_001747172.1:n.331+5828G>A
XR_001747173.1:n.331+5828G>A
XR_001747174.1:n.331+5828G>A
NM_000609.7:c.*519G>A NP_000600.1:n.*519G>A
NM_001277990.2:c.*79G>A NP_001264919.1:n.*79G>A
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