Canonical Allele Identifier: CA2918300

Gene: SGCB

Linked Data

• dbSNP Id: rs183173108
• ExAC: 4:52894107 C / A
• gnomAD v2: 4-52894107-C-A
• gnomAD v3: 4-52027941-C-A
• gnomAD v4: 4-52027941-C-A
• MyVariant Identifiers: chr4:g.52894107C>A (hg19) ; chr4:g.52027941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027941C>A , CM000666.2:g.52027941C>A	GRCh38
NC_000004.11:g.52894107C>A , CM000666.1:g.52894107C>A	GRCh37
NC_000004.10:g.52588864C>A	NCBI36
NG_008891.1:g.15379G>T , LRG_204:g.15379G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+27G>T MANE Select	ENSP00000370839.6:n.753+27G>T
ENST00000381431.9:c.753+27G>T	ENSP00000370839.5:n.753+27G>T
NM_000232.4:c.753+27G>T , LRG_204t1:c.753+27G>T	NP_000223.1:n.753+27G>T
XM_006714049.2:c.456+27G>T	XP_006714112.1:n.456+27G>T
XM_011534403.1:c.543+27G>T	XP_011532705.1:n.543+27G>T
XM_011534404.1:c.456+27G>T	XP_011532706.1:n.456+27G>T
NM_000232.5:c.753+27G>T MANE Select	NP_000223.1:n.753+27G>T