Canonical Allele Identifier: CA2693938346
Gene: VSIG4 HGNC NCBI

Linked Data

gnomAD v4: X-66021750-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66021750T>G , CM000685.2:g.66021750T>G GRCh38
NC_000023.10:g.65241592T>G , CM000685.1:g.65241592T>G GRCh37
NC_000023.9:g.65158317T>G NCBI36
NG_021306.1:g.23376A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374737.9:c.*513A>C MANE Select ENSP00000363869.4:n.*513A>C
ENST00000374737.8:c.*513A>C ENSP00000363869.4:n.*513A>C
ENST00000427538.5:c.1158A>C
ENST00000455586.6:c.*1087A>C ENSP00000411581.2:n.*1087A>C
NM_001100431.1:c.*513A>C NP_001093901.1:n.*513A>C
NM_001184830.1:c.*1087A>C NP_001171759.1:n.*1087A>C
NM_001184831.1:c.*1087A>C NP_001171760.1:n.*1087A>C
NM_001257403.1:c.*335A>C NP_001244332.1:n.*335A>C
NM_007268.2:c.*513A>C NP_009199.1:n.*513A>C
XM_017029251.2:c.*335A>C XP_016884740.1:n.*335A>C
NM_007268.3:c.*513A>C MANE Select NP_009199.1:n.*513A>C
NM_001100431.2:c.*513A>C NP_001093901.1:n.*513A>C
NM_001184831.2:c.*1087A>C NP_001171760.1:n.*1087A>C
NM_001257403.2:c.*335A>C NP_001244332.1:n.*335A>C
NM_001184830.2:c.*1087A>C NP_001171759.1:n.*1087A>C