Canonical Allele Identifier: CA796086941

Gene: SGCB

Linked Data

• dbSNP Id: rs1295195054
• gnomAD v3: 4-52027880-C-G
• gnomAD v4: 4-52027880-C-G
• MyVariant Identifiers: chr4:g.52894046C>G (hg19) ; chr4:g.52027880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027880C>G , CM000666.2:g.52027880C>G	GRCh38
NC_000004.11:g.52894046C>G , CM000666.1:g.52894046C>G	GRCh37
NC_000004.10:g.52588803C>G	NCBI36
NG_008891.1:g.15440G>C , LRG_204:g.15440G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+88G>C MANE Select	ENSP00000370839.6:n.753+88G>C
ENST00000381431.9:c.753+88G>C	ENSP00000370839.5:n.753+88G>C
NM_000232.4:c.753+88G>C , LRG_204t1:c.753+88G>C	NP_000223.1:n.753+88G>C
XM_006714049.2:c.456+88G>C	XP_006714112.1:n.456+88G>C
XM_011534403.1:c.543+88G>C	XP_011532705.1:n.543+88G>C
XM_011534404.1:c.456+88G>C	XP_011532706.1:n.456+88G>C
NM_000232.5:c.753+88G>C MANE Select	NP_000223.1:n.753+88G>C