Canonical Allele Identifier: CA2918529
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348886
ClinVar RCV Id: RCV000278024 RCV000381822 RCV000432865
dbSNP Id: rs571169918
ExAC: 4:52904450 C / T
gnomAD v2: 4-52904450-C-T
gnomAD v3: 4-52038284-C-T
gnomAD v4: 4-52038284-C-T
MyVariant Identifiers: chr4:g.52904450C>T (hg19) chr4:g.52904450_52904464delinsTTCCCCGCCCGACTG (hg19) chr4:g.52038284C>T (hg38) chr4:g.52038284_52038298delinsTTCCCCGCCCGACTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038284C>T , CM000666.2:g.52038284C>T GRCh38
NC_000004.11:g.52904450C>T , CM000666.1:g.52904450C>T GRCh37
NC_000004.10:g.52599207C>T NCBI36
NG_008891.1:g.5036G>A , LRG_204:g.5036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-25G>A MANE Select ENSP00000370839.6:n.-25G>A
ENST00000381431.9:c.-25G>A ENSP00000370839.5:n.-25G>A
NM_000232.4:c.-25G>A , LRG_204t1:c.-25G>A NP_000223.1:n.-25G>A
XM_011534403.1:c.-25G>A XP_011532705.1:n.-25G>A
NM_000232.5:c.-25G>A MANE Select NP_000223.1:n.-25G>A
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