Canonical Allele Identifier: CA2918237
Gene: SGCB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.52023971C>T
GRCh37 chr4:g.52890137C>T
Revel Score:
ENST00000381431 (MANE Select) 0.358
ENST00000535450 0.358
gnomAD v2:
4:52890137 C / T
gnomAD v3:
4:52023971 C / T
gnomAD v4:
chr4-52023971-C-T
Joint Max Group AF 0.00042796 (NFE)
Genomes Max Group AF 0.00053362 (NFE)
Exomes Max Group AF 0.00041334 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52023971C>T , CM000666.2:g.52023971C>T GRCh38
NC_000004.11:g.52890137C>T , CM000666.1:g.52890137C>T GRCh37
NC_000004.10:g.52584894C>T NCBI36
NG_008891.1:g.19349G>A , LRG_204:g.19349G>A
NG_053164.1:g.1341G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.943G>A MANE Select ENSP00000370839.6:p.Gly315Arg
ENST00000381431.9:c.943G>A ENSP00000370839.5:p.Gly315Arg
NM_000232.4:c.943G>A , LRG_204t1:c.943G>A NP_000223.1:p.Gly315Arg
XM_006714049.2:c.646G>A XP_006714112.1:p.Gly216Arg
XM_011534403.1:c.733G>A XP_011532705.1:p.Gly245Arg
XM_011534404.1:c.646G>A XP_011532706.1:p.Gly216Arg
NM_000232.5:c.943G>A MANE Select NP_000223.1:p.Gly315Arg
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