Canonical Allele Identifier: CA2918299

Gene: SGCB

Linked Data

• dbSNP Id: rs373377588
• ExAC: 4:52894104 A / C
• gnomAD v2: 4-52894104-A-C
• gnomAD v3: 4-52027938-A-C
• gnomAD v4: 4-52027938-A-C
• MyVariant Identifiers: chr4:g.52894104A>C (hg19) ; chr4:g.52027938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027938A>C , CM000666.2:g.52027938A>C	GRCh38
NC_000004.11:g.52894104A>C , CM000666.1:g.52894104A>C	GRCh37
NC_000004.10:g.52588861A>C	NCBI36
NG_008891.1:g.15382T>G , LRG_204:g.15382T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+30T>G MANE Select	ENSP00000370839.6:n.753+30T>G
ENST00000381431.9:c.753+30T>G	ENSP00000370839.5:n.753+30T>G
NM_000232.4:c.753+30T>G , LRG_204t1:c.753+30T>G	NP_000223.1:n.753+30T>G
XM_006714049.2:c.456+30T>G	XP_006714112.1:n.456+30T>G
XM_011534403.1:c.543+30T>G	XP_011532705.1:n.543+30T>G
XM_011534404.1:c.456+30T>G	XP_011532706.1:n.456+30T>G
NM_000232.5:c.753+30T>G MANE Select	NP_000223.1:n.753+30T>G