Canonical Allele Identifier: CA2689874
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 344010
ClinVar RCV Id: RCV001522010 RCV001528889
dbSNP Id: rs4855271
ExAC: 3:164714532 C / T
gnomAD v2: 3-164714532-C-T
gnomAD v3: 3-164996744-C-T
gnomAD v4: 3-164996744-C-T
MyVariant Identifiers: chr3:g.164714532C>T (hg19) chr3:g.164996744C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996744C>T , CM000665.2:g.164996744C>T GRCh38
NC_000003.11:g.164714532C>T , CM000665.1:g.164714532C>T GRCh37
NC_000003.10:g.166197226C>T NCBI36
NG_017043.1:g.86752G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.4569G>A MANE Select ENSP00000264382.3:p.Met1523Ile
ENST00000264382.7:c.4569G>A ENSP00000264382.3:p.Met1523Ile
NM_001041.3:c.4569G>A NP_001032.2:p.Met1523Ile
XM_011513078.1:c.4470G>A XP_011511380.1:p.Met1490Ile
XM_011513078.2:c.4470G>A XP_011511380.1:p.Met1490Ile
NM_001041.4:c.4569G>A MANE Select NP_001032.2:p.Met1523Ile
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