Canonical Allele Identifier: CA10621116
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348853
ClinVar RCV Id: RCV000287920 RCV000389127
dbSNP Id: rs886059426
gnomAD v3: 4-52021193-C-T
gnomAD v4: 4-52021193-C-T
MyVariant Identifiers: chr4:g.52887359C>T (hg19) chr4:g.52021193C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52021193C>T , CM000666.2:g.52021193C>T GRCh38
NC_000004.11:g.52887359C>T , CM000666.1:g.52887359C>T GRCh37
NC_000004.10:g.52582116C>T NCBI36
NG_008891.1:g.22127G>A , LRG_204:g.22127G>A
NG_053164.1:g.4119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*2764G>A MANE Select ENSP00000370839.6:n.*2764G>A
ENST00000381431.9:c.*2764G>A ENSP00000370839.5:n.*2764G>A
NM_000232.4:c.*2764G>A , LRG_204t1:c.*2764G>A NP_000223.1:n.*2764G>A
XM_006714049.2:c.*2764G>A XP_006714112.1:n.*2764G>A
XM_011534403.1:c.*2764G>A XP_011532705.1:n.*2764G>A
XM_011534404.1:c.*2764G>A XP_011532706.1:n.*2764G>A
NM_000232.5:c.*2764G>A MANE Select NP_000223.1:n.*2764G>A
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