Canonical Allele Identifier: CA551344240
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1308783226
gnomAD v2: 4-52904571-G-T
gnomAD v3: 4-52038405-G-T
gnomAD v4: 4-52038405-G-T
MyVariant Identifiers: chr4:g.52904571G>T (hg19) chr4:g.52038405G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038405G>T , CM000666.2:g.52038405G>T GRCh38
NC_000004.11:g.52904571G>T , CM000666.1:g.52904571G>T GRCh37
NC_000004.10:g.52599328G>T NCBI36
NG_008891.1:g.4915C>A , LRG_204:g.4915C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-146C>A ENSP00000370839.5:n.-146C>A
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