Canonical Allele Identifier: CA551344166
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1193500619
gnomAD v2: 4-52904447-G-T
gnomAD v3: 4-52038281-G-T
gnomAD v4: 4-52038281-G-T
MyVariant Identifiers: chr4:g.52904447G>T (hg19) chr4:g.52038281G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038281G>T , CM000666.2:g.52038281G>T GRCh38
NC_000004.11:g.52904447G>T , CM000666.1:g.52904447G>T GRCh37
NC_000004.10:g.52599204G>T NCBI36
NG_008891.1:g.5039C>A , LRG_204:g.5039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-22C>A MANE Select ENSP00000370839.6:n.-22C>A
ENST00000381431.9:c.-22C>A ENSP00000370839.5:n.-22C>A
NM_000232.4:c.-22C>A , LRG_204t1:c.-22C>A NP_000223.1:n.-22C>A
XM_011534403.1:c.-22C>A XP_011532705.1:n.-22C>A
NM_000232.5:c.-22C>A MANE Select NP_000223.1:n.-22C>A
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