Canonical Allele Identifier: CA96791982
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs911202776
gnomAD v2: 4-52904634-T-G
gnomAD v3: 4-52038468-T-G
gnomAD v4: 4-52038468-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038468T>G , CM000666.2:g.52038468T>G GRCh38
NC_000004.11:g.52904634T>G , CM000666.1:g.52904634T>G GRCh37
NC_000004.10:g.52599391T>G NCBI36
NG_008891.1:g.4852A>C , LRG_204:g.4852A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-209A>C ENSP00000370839.5:n.-209A>C