Canonical Allele Identifier: CA356875836
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 466605
ClinVar RCV Id: RCV000556382
dbSNP Id: rs1553940073
gnomAD v4: 4-52028014-C-T
MyVariant Identifiers: chr4:g.52894180C>T (hg19) chr4:g.52028014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028014C>T , CM000666.2:g.52028014C>T GRCh38
NC_000004.11:g.52894180C>T , CM000666.1:g.52894180C>T GRCh37
NC_000004.10:g.52588937C>T NCBI36
NG_008891.1:g.15306G>A , LRG_204:g.15306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.707G>A MANE Select ENSP00000370839.6:p.Gly236Asp
ENST00000381431.9:c.707G>A ENSP00000370839.5:p.Gly236Asp
NM_000232.4:c.707G>A , LRG_204t1:c.707G>A NP_000223.1:p.Gly236Asp
XM_006714049.2:c.410G>A XP_006714112.1:p.Gly137Asp
XM_011534403.1:c.497G>A XP_011532705.1:p.Gly166Asp
XM_011534404.1:c.410G>A XP_011532706.1:p.Gly137Asp
NM_000232.5:c.707G>A MANE Select NP_000223.1:p.Gly236Asp
Search 100 bp 5'
Search 100 bp 3'