Canonical Allele Identifier: CA1062454993
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737464331
gnomAD v3: 4-52038429-T-C
gnomAD v4: 4-52038429-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038429T>C , CM000666.2:g.52038429T>C GRCh38
NC_000004.11:g.52904595T>C , CM000666.1:g.52904595T>C GRCh37
NC_000004.10:g.52599352T>C NCBI36
NG_008891.1:g.4891A>G , LRG_204:g.4891A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-170A>G ENSP00000370839.5:n.-170A>G