Canonical Allele Identifier: CA356878731
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1180805
ClinVar RCV Id: RCV001814534
dbSNP Id: rs398123262
gnomAD v4: 4-52038259-T-A
MyVariant Identifiers: chr4:g.52904425T>A (hg19) chr4:g.52038259T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038259T>A , CM000666.2:g.52038259T>A GRCh38
NC_000004.11:g.52904425T>A , CM000666.1:g.52904425T>A GRCh37
NC_000004.10:g.52599182T>A NCBI36
NG_008891.1:g.5061A>T , LRG_204:g.5061A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.1A>T MANE Select ENSP00000370839.6:p.Met1Leu
ENST00000381431.9:c.1A>T ENSP00000370839.5:p.Met1Leu
NM_000232.4:c.1A>T , LRG_204t1:c.1A>T NP_000223.1:p.Met1Leu
XM_011534403.1:c.1A>T XP_011532705.1:p.Met1Leu
NM_000232.5:c.1A>T MANE Select NP_000223.1:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'