Canonical Allele Identifier: CA439274825
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2828840
ClinVar RCV Id: RCV003620956
dbSNP Id: rs1330370101
gnomAD v2: 4-52899762-A-G
gnomAD v4: 4-52033596-A-G
MyVariant Identifiers: chr4:g.52899762A>G (hg19) chr4:g.52033596A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033596A>G , CM000666.2:g.52033596A>G GRCh38
NC_000004.11:g.52899762A>G , CM000666.1:g.52899762A>G GRCh37
NC_000004.10:g.52594519A>G NCBI36
NG_008891.1:g.9724T>C , LRG_204:g.9724T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.78T>C MANE Select ENSP00000370839.6:p.Ala26=
ENST00000381431.9:c.78T>C ENSP00000370839.5:p.Ala26=
ENST00000506357.5:c.64T>C
ENST00000514133.1:c.45T>C ENSP00000425818.1:p.Ala15=
NM_000232.4:c.78T>C , LRG_204t1:c.78T>C NP_000223.1:p.Ala26=
XM_011534403.1:c.34-3733T>C XP_011532705.1:n.34-3733T>C
NM_000232.5:c.78T>C MANE Select NP_000223.1:p.Ala26=
Search 100 bp 5'
Search 100 bp 3'