Canonical Allele Identifier: CA96782955

Gene: SGCB

Linked Data

• ClinVar Variation Id: 2910684
• ClinVar RCV Id: RCV003620342
• dbSNP Id: rs1057302681
• gnomAD v2: 4-52895832-G-A
• gnomAD v4: 4-52029666-G-A
• MyVariant Identifiers: chr4:g.52895832G>A (hg19) ; chr4:g.52029666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029666G>A , CM000666.2:g.52029666G>A	GRCh38
NC_000004.11:g.52895832G>A , CM000666.1:g.52895832G>A	GRCh37
NC_000004.10:g.52590589G>A	NCBI36
NG_008891.1:g.13654C>T , LRG_204:g.13654C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.429+12C>T MANE Select	ENSP00000370839.6:n.429+12C>T
ENST00000381431.9:c.429+12C>T	ENSP00000370839.5:n.429+12C>T
ENST00000506357.5:c.512+12C>T
ENST00000514133.1:c.506+12C>T	ENSP00000425818.1:n.506+12C>T
NM_000232.4:c.429+12C>T , LRG_204t1:c.429+12C>T	NP_000223.1:n.429+12C>T
XM_006714049.2:c.132+12C>T	XP_006714112.1:n.132+12C>T
XM_011534403.1:c.219+12C>T	XP_011532705.1:n.219+12C>T
XM_011534404.1:c.132+12C>T	XP_011532706.1:n.132+12C>T
NM_000232.5:c.429+12C>T MANE Select	NP_000223.1:n.429+12C>T