Canonical Allele Identifier: CA2918304

Gene: SGCB

Linked Data

• ClinVar Variation Id: 498982
• ClinVar RCV Id: RCV000597728 ; RCV000690649 ; RCV001145735
• dbSNP Id: rs146111013
• ExAC: 4:52894135 G / A
• gnomAD v2: 4-52894135-G-A
• gnomAD v3: 4-52027969-G-A
• gnomAD v4: 4-52027969-G-A
• MyVariant Identifiers: chr4:g.52894135G>A (hg19) ; chr4:g.52027969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027969G>A , CM000666.2:g.52027969G>A	GRCh38
NC_000004.11:g.52894135G>A , CM000666.1:g.52894135G>A	GRCh37
NC_000004.10:g.52588892G>A	NCBI36
NG_008891.1:g.15351C>T , LRG_204:g.15351C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.752C>T MANE Select	ENSP00000370839.6:p.Ala251Val
ENST00000381431.9:c.752C>T	ENSP00000370839.5:p.Ala251Val
NM_000232.4:c.752C>T , LRG_204t1:c.752C>T	NP_000223.1:p.Ala251Val
XM_006714049.2:c.455C>T	XP_006714112.1:p.Ala152Val
XM_011534403.1:c.542C>T	XP_011532705.1:p.Ala181Val
XM_011534404.1:c.455C>T	XP_011532706.1:p.Ala152Val
NM_000232.5:c.752C>T MANE Select	NP_000223.1:p.Ala251Val