Canonical Allele Identifier: CA356876228

Gene: SGCB

Linked Data

• dbSNP Id: rs778962451
• gnomAD v2: 4-52894244-C-G
• gnomAD v4: 4-52028078-C-G
• MyVariant Identifiers: chr4:g.52894244C>G (hg19) ; chr4:g.52028078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028078C>G , CM000666.2:g.52028078C>G	GRCh38
NC_000004.11:g.52894244C>G , CM000666.1:g.52894244C>G	GRCh37
NC_000004.10:g.52589001C>G	NCBI36
NG_008891.1:g.15242G>C , LRG_204:g.15242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.643G>C MANE Select	ENSP00000370839.6:p.Asp215His
ENST00000381431.9:c.643G>C	ENSP00000370839.5:p.Asp215His
NM_000232.4:c.643G>C , LRG_204t1:c.643G>C	NP_000223.1:p.Asp215His
XM_006714049.2:c.346G>C	XP_006714112.1:p.Asp116His
XM_011534403.1:c.433G>C	XP_011532705.1:p.Asp145His
XM_011534404.1:c.346G>C	XP_011532706.1:p.Asp116His
NM_000232.5:c.643G>C MANE Select	NP_000223.1:p.Asp215His