Canonical Allele Identifier: CA356877326

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895943A>C (hg19) ; chr4:g.52029777A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029777A>C , CM000666.2:g.52029777A>C	GRCh38
NC_000004.11:g.52895943A>C , CM000666.1:g.52895943A>C	GRCh37
NC_000004.10:g.52590700A>C	NCBI36
NG_008891.1:g.13543T>G , LRG_204:g.13543T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.330T>G MANE Select	ENSP00000370839.6:p.Phe110Leu
ENST00000381431.9:c.330T>G	ENSP00000370839.5:p.Phe110Leu
ENST00000506357.5:c.413T>G
ENST00000514133.1:c.407T>G	ENSP00000425818.1:n.407T>G
NM_000232.4:c.330T>G , LRG_204t1:c.330T>G	NP_000223.1:p.Phe110Leu
XM_006714049.2:c.33T>G	XP_006714112.1:p.Phe11Leu
XM_011534403.1:c.120T>G	XP_011532705.1:p.Phe40Leu
XM_011534404.1:c.33T>G	XP_011532706.1:p.Phe11Leu
NM_000232.5:c.330T>G MANE Select	NP_000223.1:p.Phe110Leu