Canonical Allele Identifier: CA10621169
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348875
ClinVar RCV Id: RCV000292917 RCV000350932 RCV001786377
dbSNP Id: rs79282232
gnomAD v2: 4-52889399-G-A
gnomAD v3: 4-52023233-G-A
gnomAD v4: 4-52023233-G-A
MyVariant Identifiers: chr4:g.52889399G>A (hg19) chr4:g.52023233G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52023233G>A , CM000666.2:g.52023233G>A GRCh38
NC_000004.11:g.52889399G>A , CM000666.1:g.52889399G>A GRCh37
NC_000004.10:g.52584156G>A NCBI36
NG_008891.1:g.20087C>T , LRG_204:g.20087C>T
NG_053164.1:g.2079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*724C>T MANE Select ENSP00000370839.6:n.*724C>T
ENST00000381431.9:c.*724C>T ENSP00000370839.5:n.*724C>T
NM_000232.4:c.*724C>T , LRG_204t1:c.*724C>T NP_000223.1:n.*724C>T
XM_006714049.2:c.*724C>T XP_006714112.1:n.*724C>T
XM_011534403.1:c.*724C>T XP_011532705.1:n.*724C>T
XM_011534404.1:c.*724C>T XP_011532706.1:n.*724C>T
NM_000232.5:c.*724C>T MANE Select NP_000223.1:n.*724C>T
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