Canonical Allele Identifier: CA10621142
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348881
ClinVar RCV Id: RCV000317250 RCV000374108
dbSNP Id: rs759376332
gnomAD v4: 4-52023934-T-A
MyVariant Identifiers: chr4:g.52890100T>A (hg19) chr4:g.52023934T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52023934T>A , CM000666.2:g.52023934T>A GRCh38
NC_000004.11:g.52890100T>A , CM000666.1:g.52890100T>A GRCh37
NC_000004.10:g.52584857T>A NCBI36
NG_008891.1:g.19386A>T , LRG_204:g.19386A>T
NG_053164.1:g.1378A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*23A>T MANE Select ENSP00000370839.6:n.*23A>T
ENST00000381431.9:c.*23A>T ENSP00000370839.5:n.*23A>T
NM_000232.4:c.*23A>T , LRG_204t1:c.*23A>T NP_000223.1:n.*23A>T
XM_006714049.2:c.*23A>T XP_006714112.1:n.*23A>T
XM_011534403.1:c.*23A>T XP_011532705.1:n.*23A>T
XM_011534404.1:c.*23A>T XP_011532706.1:n.*23A>T
NM_000232.5:c.*23A>T MANE Select NP_000223.1:n.*23A>T
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