Canonical Allele Identifier: CA2918413
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2830704
ClinVar RCV Id: RCV003620988
dbSNP Id: rs764809117
ExAC: 4:52895847 C / T
gnomAD v2: 4-52895847-C-T
gnomAD v4: 4-52029681-C-T
MyVariant Identifiers: chr4:g.52895847C>T (hg19) chr4:g.52029681C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029681C>T , CM000666.2:g.52029681C>T GRCh38
NC_000004.11:g.52895847C>T , CM000666.1:g.52895847C>T GRCh37
NC_000004.10:g.52590604C>T NCBI36
NG_008891.1:g.13639G>A , LRG_204:g.13639G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.426G>A MANE Select ENSP00000370839.6:p.Gln142=
ENST00000381431.9:c.426G>A ENSP00000370839.5:p.Gln142=
ENST00000506357.5:c.509G>A
ENST00000514133.1:c.503G>A ENSP00000425818.1:n.503G>A
NM_000232.4:c.426G>A , LRG_204t1:c.426G>A NP_000223.1:p.Gln142=
XM_006714049.2:c.129G>A XP_006714112.1:p.Gln43=
XM_011534403.1:c.216G>A XP_011532705.1:p.Gln72=
XM_011534404.1:c.129G>A XP_011532706.1:p.Gln43=
NM_000232.5:c.426G>A MANE Select NP_000223.1:p.Gln142=
Search 100 bp 5'
Search 100 bp 3'