Canonical Allele Identifier: CA10618765
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348857
ClinVar RCV Id: RCV000259571 RCV000361400
dbSNP Id: rs116538326
gnomAD v2: 4-52887837-A-T
gnomAD v3: 4-52021671-A-T
gnomAD v4: 4-52021671-A-T
MyVariant Identifiers: chr4:g.52887837A>T (hg19) chr4:g.52887837_52887841delinsTAATT (hg19) chr4:g.52021671A>T (hg38) chr4:g.52021671_52021675delinsTAATT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52021671A>T , CM000666.2:g.52021671A>T GRCh38
NC_000004.11:g.52887837A>T , CM000666.1:g.52887837A>T GRCh37
NC_000004.10:g.52582594A>T NCBI36
NG_008891.1:g.21649T>A , LRG_204:g.21649T>A
NG_053164.1:g.3641T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*2286T>A MANE Select ENSP00000370839.6:n.*2286T>A
ENST00000381431.9:c.*2286T>A ENSP00000370839.5:n.*2286T>A
NM_000232.4:c.*2286T>A , LRG_204t1:c.*2286T>A NP_000223.1:n.*2286T>A
XM_006714049.2:c.*2286T>A XP_006714112.1:n.*2286T>A
XM_011534403.1:c.*2286T>A XP_011532705.1:n.*2286T>A
XM_011534404.1:c.*2286T>A XP_011532706.1:n.*2286T>A
NM_000232.5:c.*2286T>A MANE Select NP_000223.1:n.*2286T>A
Search 100 bp 5'
Search 100 bp 3'