Canonical Allele Identifier: CA796086634
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1329232162
gnomAD v3: 4-52038380-C-A
gnomAD v4: 4-52038380-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038380C>A , CM000666.2:g.52038380C>A GRCh38
NC_000004.11:g.52904546C>A , CM000666.1:g.52904546C>A GRCh37
NC_000004.10:g.52599303C>A NCBI36
NG_008891.1:g.4940G>T , LRG_204:g.4940G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-121G>T ENSP00000370839.5:n.-121G>T