Canonical Allele Identifier: CA96776361
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 645054
ClinVar RCV Id: RCV000799070
dbSNP Id: rs868151547
gnomAD v2: 4-52894172-T-C
gnomAD v3: 4-52028006-T-C
gnomAD v4: 4-52028006-T-C
MyVariant Identifiers: chr4:g.52894172T>C (hg19) chr4:g.52028006T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028006T>C , CM000666.2:g.52028006T>C GRCh38
NC_000004.11:g.52894172T>C , CM000666.1:g.52894172T>C GRCh37
NC_000004.10:g.52588929T>C NCBI36
NG_008891.1:g.15314A>G , LRG_204:g.15314A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.715A>G MANE Select ENSP00000370839.6:p.Ile239Val
ENST00000381431.9:c.715A>G ENSP00000370839.5:p.Ile239Val
NM_000232.4:c.715A>G , LRG_204t1:c.715A>G NP_000223.1:p.Ile239Val
XM_006714049.2:c.418A>G XP_006714112.1:p.Ile140Val
XM_011534403.1:c.505A>G XP_011532705.1:p.Ile169Val
XM_011534404.1:c.418A>G XP_011532706.1:p.Ile140Val
NM_000232.5:c.715A>G MANE Select NP_000223.1:p.Ile239Val
Search 100 bp 5'
Search 100 bp 3'