Canonical Allele Identifier: CA2918298

Gene: SGCB

Linked Data

• dbSNP Id: rs527719450
• ExAC: 4:52894095 A / G
• gnomAD v2: 4-52894095-A-G
• gnomAD v3: 4-52027929-A-G
• gnomAD v4: 4-52027929-A-G
• MyVariant Identifiers: chr4:g.52894095A>G (hg19) ; chr4:g.52027929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027929A>G , CM000666.2:g.52027929A>G	GRCh38
NC_000004.11:g.52894095A>G , CM000666.1:g.52894095A>G	GRCh37
NC_000004.10:g.52588852A>G	NCBI36
NG_008891.1:g.15391T>C , LRG_204:g.15391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.753+39T>C MANE Select	ENSP00000370839.6:n.753+39T>C
ENST00000381431.9:c.753+39T>C	ENSP00000370839.5:n.753+39T>C
NM_000232.4:c.753+39T>C , LRG_204t1:c.753+39T>C	NP_000223.1:n.753+39T>C
XM_006714049.2:c.456+39T>C	XP_006714112.1:n.456+39T>C
XM_011534403.1:c.543+39T>C	XP_011532705.1:n.543+39T>C
XM_011534404.1:c.456+39T>C	XP_011532706.1:n.456+39T>C
NM_000232.5:c.753+39T>C MANE Select	NP_000223.1:n.753+39T>C