Canonical Allele Identifier: CA2918531
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs756852806
ExAC: 4:52904465 T / G
gnomAD v2: 4-52904465-T-G
gnomAD v3: 4-52038299-T-G
gnomAD v4: 4-52038299-T-G
MyVariant Identifiers: chr4:g.52904465T>G (hg19) chr4:g.52038299T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038299T>G , CM000666.2:g.52038299T>G GRCh38
NC_000004.11:g.52904465T>G , CM000666.1:g.52904465T>G GRCh37
NC_000004.10:g.52599222T>G NCBI36
NG_008891.1:g.5021A>C , LRG_204:g.5021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-40A>C MANE Select ENSP00000370839.6:n.-40A>C
ENST00000381431.9:c.-40A>C ENSP00000370839.5:n.-40A>C
NM_000232.4:c.-40A>C , LRG_204t1:c.-40A>C NP_000223.1:n.-40A>C
NM_000232.5:c.-40A>C MANE Select NP_000223.1:n.-40A>C
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