Canonical Allele Identifier: CA10621130
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348877
ClinVar RCV Id: RCV000363640 RCV000394612 RCV001675854
dbSNP Id: rs225165
gnomAD v2: 4-52889602-T-A
gnomAD v3: 4-52023436-T-A
gnomAD v4: 4-52023436-T-A
MyVariant Identifiers: chr4:g.52889602T>A (hg19) chr4:g.52889602_52889606delinsATCTA (hg19) chr4:g.52023436T>A (hg38) chr4:g.52023436_52023440delinsATCTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52023436T>A , CM000666.2:g.52023436T>A GRCh38
NC_000004.11:g.52889602T>A , CM000666.1:g.52889602T>A GRCh37
NC_000004.10:g.52584359T>A NCBI36
NG_008891.1:g.19884A>T , LRG_204:g.19884A>T
NG_053164.1:g.1876A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*521A>T MANE Select ENSP00000370839.6:n.*521A>T
ENST00000381431.9:c.*521A>T ENSP00000370839.5:n.*521A>T
NM_000232.4:c.*521A>T , LRG_204t1:c.*521A>T NP_000223.1:n.*521A>T
XM_006714049.2:c.*521A>T XP_006714112.1:n.*521A>T
XM_011534403.1:c.*521A>T XP_011532705.1:n.*521A>T
XM_011534404.1:c.*521A>T XP_011532706.1:n.*521A>T
NM_000232.5:c.*521A>T MANE Select NP_000223.1:n.*521A>T
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