Canonical Allele Identifier: CA16604619
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 383308
ClinVar RCV Id: RCV000445149
dbSNP Id: rs1057521583
MyVariant Identifiers: chr4:g.52904444G>C (hg19) chr4:g.52038278G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038278G>C , CM000666.2:g.52038278G>C GRCh38
NC_000004.11:g.52904444G>C , CM000666.1:g.52904444G>C GRCh37
NC_000004.10:g.52599201G>C NCBI36
NG_008891.1:g.5042C>G , LRG_204:g.5042C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-19C>G MANE Select ENSP00000370839.6:n.-19C>G
ENST00000381431.9:c.-19C>G ENSP00000370839.5:n.-19C>G
NM_000232.4:c.-19C>G , LRG_204t1:c.-19C>G NP_000223.1:n.-19C>G
XM_011534403.1:c.-19C>G XP_011532705.1:n.-19C>G
NM_000232.5:c.-19C>G MANE Select NP_000223.1:n.-19C>G
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