Canonical Allele Identifier: CA796085886
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1333270169
gnomAD v3: 4-52038056-C-A
gnomAD v4: 4-52038056-C-A
MyVariant Identifiers: chr4:g.52904222C>A (hg19) chr4:g.52038056C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038056C>A , CM000666.2:g.52038056C>A GRCh38
NC_000004.11:g.52904222C>A , CM000666.1:g.52904222C>A GRCh37
NC_000004.10:g.52598979C>A NCBI36
NG_008891.1:g.5264G>T , LRG_204:g.5264G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+171G>T MANE Select ENSP00000370839.6:n.33+171G>T
ENST00000381431.9:c.33+171G>T ENSP00000370839.5:n.33+171G>T
ENST00000506357.5:c.19+171G>T
NM_000232.4:c.33+171G>T , LRG_204t1:c.33+171G>T NP_000223.1:n.33+171G>T
XM_011534403.1:c.33+171G>T XP_011532705.1:n.33+171G>T
NM_000232.5:c.33+171G>T MANE Select NP_000223.1:n.33+171G>T
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