Canonical Allele Identifier: CA642301709
Gene: VSIG4 HGNC NCBI

Linked Data

dbSNP Id: rs1274646641
gnomAD v2: X-65241620-G-A
gnomAD v3: X-66021778-G-A
gnomAD v4: X-66021778-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66021778G>A , CM000685.2:g.66021778G>A GRCh38
NC_000023.10:g.65241620G>A , CM000685.1:g.65241620G>A GRCh37
NC_000023.9:g.65158345G>A NCBI36
NG_021306.1:g.23348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374737.9:c.*485C>T MANE Select ENSP00000363869.4:n.*485C>T
ENST00000651578.1:c.*935C>T ENSP00000498502.1:n.*935C>T
ENST00000374737.8:c.*485C>T ENSP00000363869.4:n.*485C>T
ENST00000412866.2:c.*485C>T ENSP00000394143.2:n.*485C>T
ENST00000427538.5:c.1130C>T
ENST00000455586.6:c.*1059C>T ENSP00000411581.2:n.*1059C>T
NM_001100431.1:c.*485C>T NP_001093901.1:n.*485C>T
NM_001184830.1:c.*1059C>T NP_001171759.1:n.*1059C>T
NM_001184831.1:c.*1059C>T NP_001171760.1:n.*1059C>T
NM_001257403.1:c.*307C>T NP_001244332.1:n.*307C>T
NM_007268.2:c.*485C>T NP_009199.1:n.*485C>T
XM_017029251.2:c.*307C>T XP_016884740.1:n.*307C>T
NM_007268.3:c.*485C>T MANE Select NP_009199.1:n.*485C>T
NM_001100431.2:c.*485C>T NP_001093901.1:n.*485C>T
NM_001184831.2:c.*1059C>T NP_001171760.1:n.*1059C>T
NM_001257403.2:c.*307C>T NP_001244332.1:n.*307C>T
NM_001184830.2:c.*1059C>T NP_001171759.1:n.*1059C>T