Canonical Allele Identifier: CA96781077
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs760853464
gnomAD v4: 4-52028135-C-G
MyVariant Identifiers: chr4:g.52028135C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028135C>G , CM000666.2:g.52028135C>G GRCh38
NC_000004.11:g.52894301C>G , CM000666.1:g.52894301C>G GRCh37
NC_000004.10:g.52589058C>G NCBI36
NG_008891.1:g.15185G>C , LRG_204:g.15185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.622-36G>C MANE Select ENSP00000370839.6:n.622-36G>C
ENST00000381431.9:c.622-36G>C ENSP00000370839.5:n.622-36G>C
NM_000232.4:c.622-36G>C , LRG_204t1:c.622-36G>C NP_000223.1:n.622-36G>C
XM_006714049.2:c.325-36G>C XP_006714112.1:n.325-36G>C
XM_011534403.1:c.412-36G>C XP_011532705.1:n.412-36G>C
XM_011534404.1:c.325-36G>C XP_011532706.1:n.325-36G>C
NM_000232.5:c.622-36G>C MANE Select NP_000223.1:n.622-36G>C