Canonical Allele Identifier: CA551344189
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1198607930
gnomAD v2: 4-52904466-G-T
gnomAD v3: 4-52038300-G-T
gnomAD v4: 4-52038300-G-T
MyVariant Identifiers: chr4:g.52904466G>T (hg19) chr4:g.52038300G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038300G>T , CM000666.2:g.52038300G>T GRCh38
NC_000004.11:g.52904466G>T , CM000666.1:g.52904466G>T GRCh37
NC_000004.10:g.52599223G>T NCBI36
NG_008891.1:g.5020C>A , LRG_204:g.5020C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-41C>A ENSP00000370839.5:n.-41C>A
NM_000232.4:c.-41C>A , LRG_204t1:c.-41C>A NP_000223.1:n.-41C>A
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