Canonical Allele Identifier: CA2918444
Gene: SGCB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.52029835C>T
GRCh37 chr4:g.52896001C>T
Revel Score:
ENST00000381431 (MANE Select) 0.927
ENST00000535450 0.927
gnomAD v2:
4:52896001 C / T
gnomAD v3:
4:52029835 C / T
gnomAD v4:
chr4-52029835-C-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029835C>T , CM000666.2:g.52029835C>T GRCh38
NC_000004.11:g.52896001C>T , CM000666.1:g.52896001C>T GRCh37
NC_000004.10:g.52590758C>T NCBI36
NG_008891.1:g.13485G>A , LRG_204:g.13485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.272G>A MANE Select ENSP00000370839.6:p.Arg91His
ENST00000381431.9:c.272G>A ENSP00000370839.5:p.Arg91His
ENST00000506357.5:c.355G>A
ENST00000514133.1:c.349G>A ENSP00000425818.1:n.349G>A
NM_000232.4:c.272G>A , LRG_204t1:c.272G>A NP_000223.1:p.Arg91His
XM_006714049.2:c.-26G>A XP_006714112.1:n.-26G>A
XM_011534403.1:c.62G>A XP_011532705.1:p.Arg21His
XM_011534404.1:c.-26G>A XP_011532706.1:n.-26G>A
NM_000232.5:c.272G>A MANE Select NP_000223.1:p.Arg91His
Search 100 bp 5'
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