Canonical Allele Identifier: CA796086732
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1227118047
gnomAD v3: 4-52038450-G-C
gnomAD v4: 4-52038450-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038450G>C , CM000666.2:g.52038450G>C GRCh38
NC_000004.11:g.52904616G>C , CM000666.1:g.52904616G>C GRCh37
NC_000004.10:g.52599373G>C NCBI36
NG_008891.1:g.4870C>G , LRG_204:g.4870C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-191C>G ENSP00000370839.5:n.-191C>G