Canonical Allele Identifier: CA10621146
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348883
ClinVar RCV Id: RCV000305989 RCV000397117 RCV000960345
dbSNP Id: rs886059439
gnomAD v2: 4-52899815-G-T
gnomAD v4: 4-52033649-G-T
MyVariant Identifiers: chr4:g.52899815G>T (hg19) chr4:g.52033649G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033649G>T , CM000666.2:g.52033649G>T GRCh38
NC_000004.11:g.52899815G>T , CM000666.1:g.52899815G>T GRCh37
NC_000004.10:g.52594572G>T NCBI36
NG_008891.1:g.9671C>A , LRG_204:g.9671C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.34-9C>A MANE Select ENSP00000370839.6:n.34-9C>A
ENST00000381431.9:c.34-9C>A ENSP00000370839.5:n.34-9C>A
ENST00000506357.5:c.20-9C>A
NM_000232.4:c.34-9C>A , LRG_204t1:c.34-9C>A NP_000223.1:n.34-9C>A
XM_011534403.1:c.34-3786C>A XP_011532705.1:n.34-3786C>A
NM_000232.5:c.34-9C>A MANE Select NP_000223.1:n.34-9C>A
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