Canonical Allele Identifier: CA331041193
Gene: CXCR3 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.71618204C>G
GRCh37 chrX:g.70838054C>G
gnomAD v2:
X:70838054 C / G
gnomAD v3:
X:71618204 C / G
gnomAD v4:
chrX-71618204-C-G
Joint Max Group AF 0.01022656 (NFE)
Genomes Max Group AF 0.00995749 (NFE)
Exomes Max Group AF 0.01082502 (NFE)
dbSNP:
2280964
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71618204C>G , CM000685.2:g.71618204C>G GRCh38
NC_000023.10:g.70838054C>G , CM000685.1:g.70838054C>G GRCh37
NC_000023.9:g.70754779C>G NCBI36
NG_029076.1:g.5314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373693.4:c.12+234G>C MANE Select ENSP00000362797.3:n.12+234G>C
ENST00000373691.4:c.-92+234G>C ENSP00000362795.4:n.-92+234G>C
ENST00000373693.3:c.12+234G>C ENSP00000362797.3:n.12+234G>C
NM_001142797.1:c.-92+234G>C NP_001136269.1:n.-92+234G>C
NM_001504.1:c.12+234G>C NP_001495.1:n.12+234G>C
XM_005262256.2:c.42+127G>C XP_005262313.1:n.42+127G>C
XM_005262257.2:c.42+127G>C XP_005262314.1:n.42+127G>C
XM_005262256.3:c.42+127G>C XP_005262313.1:n.42+127G>C
XM_005262257.3:c.42+127G>C XP_005262314.1:n.42+127G>C
XM_017029435.1:c.-92+127G>C XP_016884924.1:n.-92+127G>C
XM_017029436.1:c.12+234G>C XP_016884925.1:n.12+234G>C
NM_001504.2:c.12+234G>C MANE Select NP_001495.1:n.12+234G>C
NM_001142797.2:c.-92+234G>C NP_001136269.1:n.-92+234G>C
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