Canonical Allele Identifier: CA96776298
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2160412
ClinVar RCV Id: RCV003087628
dbSNP Id: rs868255333
gnomAD v4: 4-52027986-A-G
MyVariant Identifiers: chr4:g.52894152A>G (hg19) chr4:g.52027986A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027986A>G , CM000666.2:g.52027986A>G GRCh38
NC_000004.11:g.52894152A>G , CM000666.1:g.52894152A>G GRCh37
NC_000004.10:g.52588909A>G NCBI36
NG_008891.1:g.15334T>C , LRG_204:g.15334T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.735T>C MANE Select ENSP00000370839.6:p.Gly245=
ENST00000381431.9:c.735T>C ENSP00000370839.5:p.Gly245=
NM_000232.4:c.735T>C , LRG_204t1:c.735T>C NP_000223.1:p.Gly245=
XM_006714049.2:c.438T>C XP_006714112.1:p.Gly146=
XM_011534403.1:c.525T>C XP_011532705.1:p.Gly175=
XM_011534404.1:c.438T>C XP_011532706.1:p.Gly146=
NM_000232.5:c.735T>C MANE Select NP_000223.1:p.Gly245=
Search 100 bp 5'
Search 100 bp 3'