Canonical Allele Identifier: CA551344214
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1329756029
gnomAD v2: 4-52904505-G-A
gnomAD v3: 4-52038339-G-A
gnomAD v4: 4-52038339-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038339G>A , CM000666.2:g.52038339G>A GRCh38
NC_000004.11:g.52904505G>A , CM000666.1:g.52904505G>A GRCh37
NC_000004.10:g.52599262G>A NCBI36
NG_008891.1:g.4981C>T , LRG_204:g.4981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-80C>T ENSP00000370839.5:n.-80C>T