Canonical Allele Identifier: CA96791800
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs989746794
gnomAD v4: 4-52038315-A-G
MyVariant Identifiers: chr4:g.52904481A>G (hg19) chr4:g.52038315A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038315A>G , CM000666.2:g.52038315A>G GRCh38
NC_000004.11:g.52904481A>G , CM000666.1:g.52904481A>G GRCh37
NC_000004.10:g.52599238A>G NCBI36
NG_008891.1:g.5005T>C , LRG_204:g.5005T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-56T>C ENSP00000370839.5:n.-56T>C
NM_000232.4:c.-56T>C , LRG_204t1:c.-56T>C NP_000223.1:n.-56T>C
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