Canonical Allele Identifier: CA356878675
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 577280
ClinVar RCV Id: RCV000699986 RCV001150077
dbSNP Id: rs1452778513
gnomAD v2: 4-52904397-T-C
gnomAD v3: 4-52038231-T-C
gnomAD v4: 4-52038231-T-C
MyVariant Identifiers: chr4:g.52904397T>C (hg19) chr4:g.52038231T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038231T>C , CM000666.2:g.52038231T>C GRCh38
NC_000004.11:g.52904397T>C , CM000666.1:g.52904397T>C GRCh37
NC_000004.10:g.52599154T>C NCBI36
NG_008891.1:g.5089A>G , LRG_204:g.5089A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.29A>G MANE Select ENSP00000370839.6:p.Glu10Gly
ENST00000381431.9:c.29A>G ENSP00000370839.5:p.Glu10Gly
ENST00000506357.5:c.15A>G
NM_000232.4:c.29A>G , LRG_204t1:c.29A>G NP_000223.1:p.Glu10Gly
XM_011534403.1:c.29A>G XP_011532705.1:p.Glu10Gly
NM_000232.5:c.29A>G MANE Select NP_000223.1:p.Glu10Gly
Search 100 bp 5'
Search 100 bp 3'