Canonical Allele Identifier: CA2918297

Gene: SGCB

Linked Data

• dbSNP Id: rs752991433
• ExAC: 4:52894092 A / G
• gnomAD v2: 4-52894092-A-G
• gnomAD v3: 4-52027926-A-G
• gnomAD v4: 4-52027926-A-G
• MyVariant Identifiers: chr4:g.52894092A>G (hg19) ; chr4:g.52027926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027926A>G , CM000666.2:g.52027926A>G	GRCh38
NC_000004.11:g.52894092A>G , CM000666.1:g.52894092A>G	GRCh37
NC_000004.10:g.52588849A>G	NCBI36
NG_008891.1:g.15394T>C , LRG_204:g.15394T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+42T>C MANE Select	ENSP00000370839.6:n.753+42T>C
ENST00000381431.9:c.753+42T>C	ENSP00000370839.5:n.753+42T>C
NM_000232.4:c.753+42T>C , LRG_204t1:c.753+42T>C	NP_000223.1:n.753+42T>C
XM_006714049.2:c.456+42T>C	XP_006714112.1:n.456+42T>C
XM_011534403.1:c.543+42T>C	XP_011532705.1:n.543+42T>C
XM_011534404.1:c.456+42T>C	XP_011532706.1:n.456+42T>C
NM_000232.5:c.753+42T>C MANE Select	NP_000223.1:n.753+42T>C