Canonical Allele Identifier: CA96791400
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs950404651
gnomAD v3: 4-52038033-T-C
gnomAD v4: 4-52038033-T-C
MyVariant Identifiers: chr4:g.52904199T>C (hg19) chr4:g.52038033T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038033T>C , CM000666.2:g.52038033T>C GRCh38
NC_000004.11:g.52904199T>C , CM000666.1:g.52904199T>C GRCh37
NC_000004.10:g.52598956T>C NCBI36
NG_008891.1:g.5287A>G , LRG_204:g.5287A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+194A>G MANE Select ENSP00000370839.6:n.33+194A>G
ENST00000381431.9:c.33+194A>G ENSP00000370839.5:n.33+194A>G
ENST00000506357.5:c.19+194A>G
NM_000232.4:c.33+194A>G , LRG_204t1:c.33+194A>G NP_000223.1:n.33+194A>G
XM_011534403.1:c.33+194A>G XP_011532705.1:n.33+194A>G
NM_000232.5:c.33+194A>G MANE Select NP_000223.1:n.33+194A>G
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