Canonical Allele Identifier: CA2918377
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 285961
ClinVar RCV Id: RCV000286709 RCV000696139 RCV000725755 RCV001148509 RCV002519200
dbSNP Id: rs138877636
ExAC: 4:52895021 T / C
gnomAD v2: 4-52895021-T-C
gnomAD v3: 4-52028855-T-C
gnomAD v4: 4-52028855-T-C
MyVariant Identifiers: chr4:g.52895021T>C (hg19) chr4:g.52028855T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028855T>C , CM000666.2:g.52028855T>C GRCh38
NC_000004.11:g.52895021T>C , CM000666.1:g.52895021T>C GRCh37
NC_000004.10:g.52589778T>C NCBI36
NG_008891.1:g.14465A>G , LRG_204:g.14465A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.496A>G MANE Select ENSP00000370839.6:p.Ile166Val
ENST00000381431.9:c.496A>G ENSP00000370839.5:p.Ile166Val
ENST00000506357.5:c.579A>G
ENST00000514133.1:c.573A>G ENSP00000425818.1:n.573A>G
NM_000232.4:c.496A>G , LRG_204t1:c.496A>G NP_000223.1:p.Ile166Val
XM_006714049.2:c.199A>G XP_006714112.1:p.Ile67Val
XM_011534403.1:c.286A>G XP_011532705.1:p.Ile96Val
XM_011534404.1:c.199A>G XP_011532706.1:p.Ile67Val
NM_000232.5:c.496A>G MANE Select NP_000223.1:p.Ile166Val
Search 100 bp 5'
Search 100 bp 3'