Canonical Allele Identifier: CA2693938342
Gene: VSIG4 HGNC NCBI

Linked Data

gnomAD v4: X-66021741-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66021741C>G , CM000685.2:g.66021741C>G GRCh38
NC_000023.10:g.65241583C>G , CM000685.1:g.65241583C>G GRCh37
NC_000023.9:g.65158308C>G NCBI36
NG_021306.1:g.23385G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374737.9:c.*522G>C MANE Select ENSP00000363869.4:n.*522G>C
ENST00000374737.8:c.*522G>C ENSP00000363869.4:n.*522G>C
ENST00000427538.5:c.1167G>C
ENST00000455586.6:c.*1096G>C ENSP00000411581.2:n.*1096G>C
NM_001100431.1:c.*522G>C NP_001093901.1:n.*522G>C
NM_001184830.1:c.*1096G>C NP_001171759.1:n.*1096G>C
NM_001184831.1:c.*1096G>C NP_001171760.1:n.*1096G>C
NM_001257403.1:c.*344G>C NP_001244332.1:n.*344G>C
NM_007268.2:c.*522G>C NP_009199.1:n.*522G>C
XM_017029251.2:c.*344G>C XP_016884740.1:n.*344G>C
NM_007268.3:c.*522G>C MANE Select NP_009199.1:n.*522G>C
NM_001100431.2:c.*522G>C NP_001093901.1:n.*522G>C
NM_001184831.2:c.*1096G>C NP_001171760.1:n.*1096G>C
NM_001257403.2:c.*344G>C NP_001244332.1:n.*344G>C
NM_001184830.2:c.*1096G>C NP_001171759.1:n.*1096G>C