Canonical Allele Identifier: CA796086734
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1385680715
gnomAD v3: 4-52038462-T-G
gnomAD v4: 4-52038462-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038462T>G , CM000666.2:g.52038462T>G GRCh38
NC_000004.11:g.52904628T>G , CM000666.1:g.52904628T>G GRCh37
NC_000004.10:g.52599385T>G NCBI36
NG_008891.1:g.4858A>C , LRG_204:g.4858A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-203A>C ENSP00000370839.5:n.-203A>C