Canonical Allele Identifier: CA439274992
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2788861
ClinVar RCV Id: RCV003620021
dbSNP Id: rs1371231163
gnomAD v4: 4-52038239-C-T
MyVariant Identifiers: chr4:g.52904405C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038239C>T , CM000666.2:g.52038239C>T GRCh38
NC_000004.11:g.52904405C>T , CM000666.1:g.52904405C>T GRCh37
NC_000004.10:g.52599162C>T NCBI36
NG_008891.1:g.5081G>A , LRG_204:g.5081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.21G>A MANE Select ENSP00000370839.6:p.Ala7=
ENST00000381431.9:c.21G>A ENSP00000370839.5:p.Ala7=
ENST00000506357.5:c.7G>A
NM_000232.4:c.21G>A , LRG_204t1:c.21G>A NP_000223.1:p.Ala7=
XM_011534403.1:c.21G>A XP_011532705.1:p.Ala7=
NM_000232.5:c.21G>A MANE Select NP_000223.1:p.Ala7=
Search 100 bp 5'
Search 100 bp 3'