Canonical Allele Identifier: CA15029943
Gene: VSIG4 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.66021884G>A
GRCh37 chrX:g.65241726G>A
gnomAD v2:
X:65241726 G / A
gnomAD v3:
X:66021884 G / A
gnomAD v4:
chrX-66021884-G-A
Joint Max Group AF 0.14073462 (NFE)
Genomes Max Group AF 0.13752098 (NFE)
Exomes Max Group AF 0.14122748 (NFE)
dbSNP:
1044165
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66021884G>A , CM000685.2:g.66021884G>A GRCh38
NC_000023.10:g.65241726G>A , CM000685.1:g.65241726G>A GRCh37
NC_000023.9:g.65158451G>A NCBI36
NG_021306.1:g.23242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374737.9:c.*379C>T MANE Select ENSP00000363869.4:n.*379C>T
ENST00000651578.1:c.*829C>T ENSP00000498502.1:n.*829C>T
ENST00000374737.8:c.*379C>T ENSP00000363869.4:n.*379C>T
ENST00000412866.2:c.*379C>T ENSP00000394143.2:n.*379C>T
ENST00000427538.5:c.1024C>T
ENST00000455586.6:c.*953C>T ENSP00000411581.2:n.*953C>T
NM_001100431.1:c.*379C>T NP_001093901.1:n.*379C>T
NM_001184830.1:c.*953C>T NP_001171759.1:n.*953C>T
NM_001184831.1:c.*953C>T NP_001171760.1:n.*953C>T
NM_001257403.1:c.*201C>T NP_001244332.1:n.*201C>T
NM_007268.2:c.*379C>T NP_009199.1:n.*379C>T
XM_017029251.2:c.*201C>T XP_016884740.1:n.*201C>T
NM_007268.3:c.*379C>T MANE Select NP_009199.1:n.*379C>T
NM_001100431.2:c.*379C>T NP_001093901.1:n.*379C>T
NM_001184831.2:c.*953C>T NP_001171760.1:n.*953C>T
NM_001257403.2:c.*201C>T NP_001244332.1:n.*201C>T
NM_001184830.2:c.*953C>T NP_001171759.1:n.*953C>T
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