Canonical Allele Identifier: CA2918528
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 388695
ClinVar RCV Id: RCV000418467
dbSNP Id: rs551252676
ExAC: 4:52904446 C / G
gnomAD v2: 4-52904446-C-G
gnomAD v3: 4-52038280-C-G
gnomAD v4: 4-52038280-C-G
MyVariant Identifiers: chr4:g.52904446C>G (hg19) chr4:g.52038280C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038280C>G , CM000666.2:g.52038280C>G GRCh38
NC_000004.11:g.52904446C>G , CM000666.1:g.52904446C>G GRCh37
NC_000004.10:g.52599203C>G NCBI36
NG_008891.1:g.5040G>C , LRG_204:g.5040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-21G>C MANE Select ENSP00000370839.6:n.-21G>C
ENST00000381431.9:c.-21G>C ENSP00000370839.5:n.-21G>C
NM_000232.4:c.-21G>C , LRG_204t1:c.-21G>C NP_000223.1:n.-21G>C
XM_011534403.1:c.-21G>C XP_011532705.1:n.-21G>C
NM_000232.5:c.-21G>C MANE Select NP_000223.1:n.-21G>C
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