Canonical Allele Identifier: CA96786304

Gene: SGCB

Linked Data

• dbSNP Id: rs992440256
• gnomAD v2: 4-52899451-C-G
• gnomAD v3: 4-52033285-C-G
• gnomAD v4: 4-52033285-C-G
• MyVariant Identifiers: chr4:g.52899451C>G (hg19) ; chr4:g.52033285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033285C>G , CM000666.2:g.52033285C>G	GRCh38
NC_000004.11:g.52899451C>G , CM000666.1:g.52899451C>G	GRCh37
NC_000004.10:g.52594208C>G	NCBI36
NG_008891.1:g.10035G>C , LRG_204:g.10035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+146G>C MANE Select	ENSP00000370839.6:n.243+146G>C
ENST00000381431.9:c.243+146G>C	ENSP00000370839.5:n.243+146G>C
ENST00000506357.5:c.229+146G>C
ENST00000514133.1:c.210+146G>C	ENSP00000425818.1:n.210+146G>C
NM_000232.4:c.243+146G>C , LRG_204t1:c.243+146G>C	NP_000223.1:n.243+146G>C
XM_006714049.2:c.-165+146G>C	XP_006714112.1:n.-165+146G>C
XM_011534403.1:c.34-3422G>C	XP_011532705.1:n.34-3422G>C
XM_011534404.1:c.-142+146G>C	XP_011532706.1:n.-142+146G>C
NM_000232.5:c.243+146G>C MANE Select	NP_000223.1:n.243+146G>C