Canonical Allele Identifier: CA551344205
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1165803417
gnomAD v2: 4-52904486-A-C
gnomAD v3: 4-52038320-A-C
gnomAD v4: 4-52038320-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038320A>C , CM000666.2:g.52038320A>C GRCh38
NC_000004.11:g.52904486A>C , CM000666.1:g.52904486A>C GRCh37
NC_000004.10:g.52599243A>C NCBI36
NG_008891.1:g.5000T>G , LRG_204:g.5000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-61T>G ENSP00000370839.5:n.-61T>G