Canonical Allele Identifier: CA2918414

Gene: SGCB

Linked Data

• dbSNP Id: rs752109221
• ExAC: 4:52895851 T / A
• gnomAD v2: 4-52895851-T-A
• gnomAD v4: 4-52029685-T-A
• MyVariant Identifiers: chr4:g.52895851T>A (hg19) ; chr4:g.52029685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029685T>A , CM000666.2:g.52029685T>A	GRCh38
NC_000004.11:g.52895851T>A , CM000666.1:g.52895851T>A	GRCh37
NC_000004.10:g.52590608T>A	NCBI36
NG_008891.1:g.13635A>T , LRG_204:g.13635A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.422A>T MANE Select	ENSP00000370839.6:p.Asn141Ile
ENST00000381431.9:c.422A>T	ENSP00000370839.5:p.Asn141Ile
ENST00000506357.5:c.505A>T
ENST00000514133.1:c.499A>T	ENSP00000425818.1:n.499A>T
NM_000232.4:c.422A>T , LRG_204t1:c.422A>T	NP_000223.1:p.Asn141Ile
XM_006714049.2:c.125A>T	XP_006714112.1:p.Asn42Ile
XM_011534403.1:c.212A>T	XP_011532705.1:p.Asn71Ile
XM_011534404.1:c.125A>T	XP_011532706.1:p.Asn42Ile
NM_000232.5:c.422A>T MANE Select	NP_000223.1:p.Asn141Ile