Canonical Allele Identifier: CA439274988
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1099171
ClinVar RCV Id: RCV001421370
dbSNP Id: rs2109380841
gnomAD v4: 4-52038236-A-G
MyVariant Identifiers: chr4:g.52904402A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038236A>G , CM000666.2:g.52038236A>G GRCh38
NC_000004.11:g.52904402A>G , CM000666.1:g.52904402A>G GRCh37
NC_000004.10:g.52599159A>G NCBI36
NG_008891.1:g.5084T>C , LRG_204:g.5084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.24T>C MANE Select ENSP00000370839.6:p.Ala8=
ENST00000381431.9:c.24T>C ENSP00000370839.5:p.Ala8=
ENST00000506357.5:c.10T>C
NM_000232.4:c.24T>C , LRG_204t1:c.24T>C NP_000223.1:p.Ala8=
XM_011534403.1:c.24T>C XP_011532705.1:p.Ala8=
NM_000232.5:c.24T>C MANE Select NP_000223.1:p.Ala8=
Search 100 bp 5'
Search 100 bp 3'