Canonical Allele Identifier: CA356878709
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1004565968
gnomAD v2: 4-52904415-G-T
gnomAD v4: 4-52038249-G-T
MyVariant Identifiers: chr4:g.52904415G>T (hg19) chr4:g.52038249G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038249G>T , CM000666.2:g.52038249G>T GRCh38
NC_000004.11:g.52904415G>T , CM000666.1:g.52904415G>T GRCh37
NC_000004.10:g.52599172G>T NCBI36
NG_008891.1:g.5071C>A , LRG_204:g.5071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.11C>A MANE Select ENSP00000370839.6:p.Ala4Glu
ENST00000381431.9:c.11C>A ENSP00000370839.5:p.Ala4Glu
NM_000232.4:c.11C>A , LRG_204t1:c.11C>A NP_000223.1:p.Ala4Glu
XM_011534403.1:c.11C>A XP_011532705.1:p.Ala4Glu
NM_000232.5:c.11C>A MANE Select NP_000223.1:p.Ala4Glu
Search 100 bp 5'
Search 100 bp 3'