Canonical Allele Identifier: CA2918446
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 551805
ClinVar RCV Id: RCV000666951 RCV002222588
dbSNP Id: rs762652676
ExAC: 4:52896008 C / T
gnomAD v2: 4-52896008-C-T
gnomAD v4: 4-52029842-C-T
COSMIC: COSM4434462
MyVariant Identifiers: chr4:g.52896008C>T (hg19) chr4:g.52029842C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029842C>T , CM000666.2:g.52029842C>T GRCh38
NC_000004.11:g.52896008C>T , CM000666.1:g.52896008C>T GRCh37
NC_000004.10:g.52590765C>T NCBI36
NG_008891.1:g.13478G>A , LRG_204:g.13478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.265G>A MANE Select ENSP00000370839.6:p.Val89Met
ENST00000381431.9:c.265G>A ENSP00000370839.5:p.Val89Met
ENST00000506357.5:c.348G>A
ENST00000514133.1:c.342G>A ENSP00000425818.1:n.342G>A
NM_000232.4:c.265G>A , LRG_204t1:c.265G>A NP_000223.1:p.Val89Met
XM_006714049.2:c.-33G>A XP_006714112.1:n.-33G>A
XM_011534403.1:c.55G>A XP_011532705.1:p.Val19Met
XM_011534404.1:c.-33G>A XP_011532706.1:n.-33G>A
NM_000232.5:c.265G>A MANE Select NP_000223.1:p.Val89Met
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Search 100 bp 3'