Canonical Allele Identifier: CA356875814

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52894169C>G (hg19) ; chr4:g.52028003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028003C>G , CM000666.2:g.52028003C>G	GRCh38
NC_000004.11:g.52894169C>G , CM000666.1:g.52894169C>G	GRCh37
NC_000004.10:g.52588926C>G	NCBI36
NG_008891.1:g.15317G>C , LRG_204:g.15317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.718G>C MANE Select	ENSP00000370839.6:p.Glu240Gln
ENST00000381431.9:c.718G>C	ENSP00000370839.5:p.Glu240Gln
NM_000232.4:c.718G>C , LRG_204t1:c.718G>C	NP_000223.1:p.Glu240Gln
XM_006714049.2:c.421G>C	XP_006714112.1:p.Glu141Gln
XM_011534403.1:c.508G>C	XP_011532705.1:p.Glu170Gln
XM_011534404.1:c.421G>C	XP_011532706.1:p.Glu141Gln
NM_000232.5:c.718G>C MANE Select	NP_000223.1:p.Glu240Gln