Canonical Allele Identifier: CA1062454944
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1273205956
gnomAD v3: 4-52038404-C-A
gnomAD v4: 4-52038404-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038404C>A , CM000666.2:g.52038404C>A GRCh38
NC_000004.11:g.52904570C>A , CM000666.1:g.52904570C>A GRCh37
NC_000004.10:g.52599327C>A NCBI36
NG_008891.1:g.4916G>T , LRG_204:g.4916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-145G>T ENSP00000370839.5:n.-145G>T