Canonical Allele Identifier: CA439274340
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2778983
ClinVar RCV Id: RCV003619897
dbSNP Id: rs1389228653
gnomAD v2: 4-52895940-C-T
gnomAD v4: 4-52029774-C-T
MyVariant Identifiers: chr4:g.52895940C>T (hg19) chr4:g.52029774C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029774C>T , CM000666.2:g.52029774C>T GRCh38
NC_000004.11:g.52895940C>T , CM000666.1:g.52895940C>T GRCh37
NC_000004.10:g.52590697C>T NCBI36
NG_008891.1:g.13546G>A , LRG_204:g.13546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.333G>A MANE Select ENSP00000370839.6:p.Lys111=
ENST00000381431.9:c.333G>A ENSP00000370839.5:p.Lys111=
ENST00000506357.5:c.416G>A
ENST00000514133.1:c.410G>A ENSP00000425818.1:n.410G>A
NM_000232.4:c.333G>A , LRG_204t1:c.333G>A NP_000223.1:p.Lys111=
XM_006714049.2:c.36G>A XP_006714112.1:p.Lys12=
XM_011534403.1:c.123G>A XP_011532705.1:p.Lys41=
XM_011534404.1:c.36G>A XP_011532706.1:p.Lys12=
NM_000232.5:c.333G>A MANE Select NP_000223.1:p.Lys111=
Search 100 bp 5'
Search 100 bp 3'