Canonical Allele Identifier: CA2918301
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2873367
ClinVar RCV Id: RCV003619314
dbSNP Id: rs757364828
ExAC: 4:52894115 C / T
gnomAD v2: 4-52894115-C-T
gnomAD v4: 4-52027949-C-T
MyVariant Identifiers: chr4:g.52894115C>T (hg19) chr4:g.52027949C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027949C>T , CM000666.2:g.52027949C>T GRCh38
NC_000004.11:g.52894115C>T , CM000666.1:g.52894115C>T GRCh37
NC_000004.10:g.52588872C>T NCBI36
NG_008891.1:g.15371G>A , LRG_204:g.15371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.753+19G>A MANE Select ENSP00000370839.6:n.753+19G>A
ENST00000381431.9:c.753+19G>A ENSP00000370839.5:n.753+19G>A
NM_000232.4:c.753+19G>A , LRG_204t1:c.753+19G>A NP_000223.1:n.753+19G>A
XM_006714049.2:c.456+19G>A XP_006714112.1:n.456+19G>A
XM_011534403.1:c.543+19G>A XP_011532705.1:n.543+19G>A
XM_011534404.1:c.456+19G>A XP_011532706.1:n.456+19G>A
NM_000232.5:c.753+19G>A MANE Select NP_000223.1:n.753+19G>A
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