Canonical Allele Identifier: CA551344234
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1227430880
gnomAD v2: 4-52904567-T-A
gnomAD v3: 4-52038401-T-A
gnomAD v4: 4-52038401-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038401T>A , CM000666.2:g.52038401T>A GRCh38
NC_000004.11:g.52904567T>A , CM000666.1:g.52904567T>A GRCh37
NC_000004.10:g.52599324T>A NCBI36
NG_008891.1:g.4919A>T , LRG_204:g.4919A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-142A>T ENSP00000370839.5:n.-142A>T