Canonical Allele Identifier: CA10621117

Gene: SGCB

Linked Data

• ClinVar Variation Id: 348854
• ClinVar RCV Id: RCV000345176 ; RCV000404180
• dbSNP Id: rs574973588
• gnomAD v3: 4-52021250-A-G
• gnomAD v4: 4-52021250-A-G
• MyVariant Identifiers: chr4:g.52887416A>G (hg19) ; chr4:g.52021250A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52021250A>G , CM000666.2:g.52021250A>G	GRCh38
NC_000004.11:g.52887416A>G , CM000666.1:g.52887416A>G	GRCh37
NC_000004.10:g.52582173A>G	NCBI36
NG_008891.1:g.22070T>C , LRG_204:g.22070T>C
NG_053164.1:g.4062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.*2707T>C MANE Select	ENSP00000370839.6:n.*2707T>C
ENST00000381431.9:c.*2707T>C	ENSP00000370839.5:n.*2707T>C
NM_000232.4:c.*2707T>C , LRG_204t1:c.*2707T>C	NP_000223.1:n.*2707T>C
XM_006714049.2:c.*2707T>C	XP_006714112.1:n.*2707T>C
XM_011534403.1:c.*2707T>C	XP_011532705.1:n.*2707T>C
XM_011534404.1:c.*2707T>C	XP_011532706.1:n.*2707T>C
NM_000232.5:c.*2707T>C MANE Select	NP_000223.1:n.*2707T>C