Canonical Allele Identifier: CA145911

Gene: SGCB

Linked Data

• ClinVar Variation Id: 92662
• ClinVar RCV Id: RCV000078413 ; RCV000547914 ; RCV001288755 ; RCV002514376
• dbSNP Id: rs115928999
• ExAC: 4:52899748 C / A
• gnomAD v2: 4-52899748-C-A
• gnomAD v3: 4-52033582-C-A
• gnomAD v4: 4-52033582-C-A
• MyVariant Identifiers: chr4:g.52899748C>A (hg19) ; chr4:g.52033582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033582C>A , CM000666.2:g.52033582C>A	GRCh38
NC_000004.11:g.52899748C>A , CM000666.1:g.52899748C>A	GRCh37
NC_000004.10:g.52594505C>A	NCBI36
NG_008891.1:g.9738G>T , LRG_204:g.9738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.92G>T MANE Select	ENSP00000370839.6:p.Ser31Ile
ENST00000381431.9:c.92G>T	ENSP00000370839.5:p.Ser31Ile
ENST00000506357.5:c.78G>T
ENST00000514133.1:c.59G>T	ENSP00000425818.1:p.Ser20Ile
NM_000232.4:c.92G>T , LRG_204t1:c.92G>T	NP_000223.1:p.Ser31Ile
XM_011534403.1:c.34-3719G>T	XP_011532705.1:n.34-3719G>T
NM_000232.5:c.92G>T MANE Select	NP_000223.1:p.Ser31Ile