Canonical Allele Identifier: CA2918438

Gene: SGCB

Linked Data

• dbSNP Id: rs780186595
• ExAC: 4:52895949 A / G
• gnomAD v2: 4-52895949-A-G
• gnomAD v4: 4-52029783-A-G
• MyVariant Identifiers: chr4:g.52895949A>G (hg19) ; chr4:g.52029783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029783A>G , CM000666.2:g.52029783A>G	GRCh38
NC_000004.11:g.52895949A>G , CM000666.1:g.52895949A>G	GRCh37
NC_000004.10:g.52590706A>G	NCBI36
NG_008891.1:g.13537T>C , LRG_204:g.13537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.324T>C MANE Select	ENSP00000370839.6:p.Leu108=
ENST00000381431.9:c.324T>C	ENSP00000370839.5:p.Leu108=
ENST00000506357.5:c.407T>C
ENST00000514133.1:c.401T>C	ENSP00000425818.1:n.401T>C
NM_000232.4:c.324T>C , LRG_204t1:c.324T>C	NP_000223.1:p.Leu108=
XM_006714049.2:c.27T>C	XP_006714112.1:p.Leu9=
XM_011534403.1:c.114T>C	XP_011532705.1:p.Leu38=
XM_011534404.1:c.27T>C	XP_011532706.1:p.Leu9=
NM_000232.5:c.324T>C MANE Select	NP_000223.1:p.Leu108=