Canonical Allele Identifier: CA356876184

Gene: SGCB

Linked Data

• gnomAD v4: 4-52028069-T-C
• MyVariant Identifiers: chr4:g.52894235T>C (hg19) ; chr4:g.52028069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028069T>C , CM000666.2:g.52028069T>C	GRCh38
NC_000004.11:g.52894235T>C , CM000666.1:g.52894235T>C	GRCh37
NC_000004.10:g.52588992T>C	NCBI36
NG_008891.1:g.15251A>G , LRG_204:g.15251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.652A>G MANE Select	ENSP00000370839.6:p.Ile218Val
ENST00000381431.9:c.652A>G	ENSP00000370839.5:p.Ile218Val
NM_000232.4:c.652A>G , LRG_204t1:c.652A>G	NP_000223.1:p.Ile218Val
XM_006714049.2:c.355A>G	XP_006714112.1:p.Ile119Val
XM_011534403.1:c.442A>G	XP_011532705.1:p.Ile148Val
XM_011534404.1:c.355A>G	XP_011532706.1:p.Ile119Val
NM_000232.5:c.652A>G MANE Select	NP_000223.1:p.Ile218Val