Canonical Allele Identifier: CA356876217

Gene: SGCB

Linked Data

• dbSNP Id: rs1477801627
• gnomAD v3: 4-52028075-A-T
• gnomAD v4: 4-52028075-A-T
• MyVariant Identifiers: chr4:g.52894241A>T (hg19) ; chr4:g.52028075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028075A>T , CM000666.2:g.52028075A>T	GRCh38
NC_000004.11:g.52894241A>T , CM000666.1:g.52894241A>T	GRCh37
NC_000004.10:g.52588998A>T	NCBI36
NG_008891.1:g.15245T>A , LRG_204:g.15245T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.646T>A MANE Select	ENSP00000370839.6:p.Leu216Ile
ENST00000381431.9:c.646T>A	ENSP00000370839.5:p.Leu216Ile
NM_000232.4:c.646T>A , LRG_204t1:c.646T>A	NP_000223.1:p.Leu216Ile
XM_006714049.2:c.349T>A	XP_006714112.1:p.Leu117Ile
XM_011534403.1:c.436T>A	XP_011532705.1:p.Leu146Ile
XM_011534404.1:c.349T>A	XP_011532706.1:p.Leu117Ile
NM_000232.5:c.646T>A MANE Select	NP_000223.1:p.Leu216Ile