Canonical Allele Identifier: CA2918527
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1948197
ClinVar RCV Id: RCV002663888
dbSNP Id: rs758245081
ExAC: 4:52904414 C / T
gnomAD v2: 4-52904414-C-T
gnomAD v3: 4-52038248-C-T
gnomAD v4: 4-52038248-C-T
MyVariant Identifiers: chr4:g.52904414C>T (hg19) chr4:g.52038248C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038248C>T , CM000666.2:g.52038248C>T GRCh38
NC_000004.11:g.52904414C>T , CM000666.1:g.52904414C>T GRCh37
NC_000004.10:g.52599171C>T NCBI36
NG_008891.1:g.5072G>A , LRG_204:g.5072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.12G>A MANE Select ENSP00000370839.6:p.Ala4=
ENST00000381431.9:c.12G>A ENSP00000370839.5:p.Ala4=
NM_000232.4:c.12G>A , LRG_204t1:c.12G>A NP_000223.1:p.Ala4=
XM_011534403.1:c.12G>A XP_011532705.1:p.Ala4=
NM_000232.5:c.12G>A MANE Select NP_000223.1:p.Ala4=
Search 100 bp 5'
Search 100 bp 3'