Canonical Allele Identifier: CA243128
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 196237
ClinVar RCV Id: RCV000177019 RCV003137705
dbSNP Id: rs794727477
gnomAD v3: 4-52029673-C-T
gnomAD v4: 4-52029673-C-T
MyVariant Identifiers: chr4:g.52895839C>T (hg19) chr4:g.52029673C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029673C>T , CM000666.2:g.52029673C>T GRCh38
NC_000004.11:g.52895839C>T , CM000666.1:g.52895839C>T GRCh37
NC_000004.10:g.52590596C>T NCBI36
NG_008891.1:g.13647G>A , LRG_204:g.13647G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.429+5G>A MANE Select ENSP00000370839.6:n.429+5G>A
ENST00000381431.9:c.429+5G>A ENSP00000370839.5:n.429+5G>A
ENST00000506357.5:c.512+5G>A
ENST00000514133.1:c.506+5G>A ENSP00000425818.1:n.506+5G>A
NM_000232.4:c.429+5G>A , LRG_204t1:c.429+5G>A NP_000223.1:n.429+5G>A
XM_006714049.2:c.132+5G>A XP_006714112.1:n.132+5G>A
XM_011534403.1:c.219+5G>A XP_011532705.1:n.219+5G>A
XM_011534404.1:c.132+5G>A XP_011532706.1:n.132+5G>A
NM_000232.5:c.429+5G>A MANE Select NP_000223.1:n.429+5G>A
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