Canonical Allele Identifier: CA439274328

Gene: SGCB

Linked Data

• ClinVar Variation Id: 2189775
• ClinVar RCV Id: RCV002611811
• dbSNP Id: rs2109371943
• gnomAD v4: 4-52029768-T-C
• MyVariant Identifiers: chr4:g.52895934T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029768T>C , CM000666.2:g.52029768T>C	GRCh38
NC_000004.11:g.52895934T>C , CM000666.1:g.52895934T>C	GRCh37
NC_000004.10:g.52590691T>C	NCBI36
NG_008891.1:g.13552A>G , LRG_204:g.13552A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.339A>G MANE Select	ENSP00000370839.6:p.Val113=
ENST00000381431.9:c.339A>G	ENSP00000370839.5:p.Val113=
ENST00000506357.5:c.422A>G
ENST00000514133.1:c.416A>G	ENSP00000425818.1:n.416A>G
NM_000232.4:c.339A>G , LRG_204t1:c.339A>G	NP_000223.1:p.Val113=
XM_006714049.2:c.42A>G	XP_006714112.1:p.Val14=
XM_011534403.1:c.129A>G	XP_011532705.1:p.Val43=
XM_011534404.1:c.42A>G	XP_011532706.1:p.Val14=
NM_000232.5:c.339A>G MANE Select	NP_000223.1:p.Val113=