Canonical Allele Identifier: CA115004
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.164983015A>C
GRCh37 chr3:g.164700803A>C
Revel Score:
ENST00000264382 (MANE Select) 0.792
gnomAD v2:
3:164700803 A / C
gnomAD v3:
3:164983015 A / C
gnomAD v4:
chr3-164983015-A-C
Joint Max Group AF 0.00155518 (NFE)
Genomes Max Group AF 0.00152106 (NFE)
Exomes Max Group AF 0.00154367 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164983015A>C , CM000665.2:g.164983015A>C GRCh38
NC_000003.11:g.164700803A>C , CM000665.1:g.164700803A>C GRCh37
NC_000003.10:g.166183497A>C NCBI36
NG_017043.1:g.100481T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.5234T>G MANE Select ENSP00000264382.3:p.Phe1745Cys
ENST00000264382.7:c.5234T>G ENSP00000264382.3:p.Phe1745Cys
NM_001041.3:c.5234T>G NP_001032.2:p.Phe1745Cys
XM_011513078.1:c.5135T>G XP_011511380.1:p.Phe1712Cys
XM_011513078.2:c.5135T>G XP_011511380.1:p.Phe1712Cys
NM_001041.4:c.5234T>G MANE Select NP_001032.2:p.Phe1745Cys
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