Canonical Allele Identifier: CA2691531
Gene: SI HGNC NCBI

Linked Data

ClinVar Variation Id: 900784
ClinVar RCV Id: RCV001146225 RCV002070771
dbSNP Id: rs373374968
ExAC: 3:164786855 G / A
gnomAD v2: 3-164786855-G-A
gnomAD v3: 3-165069067-G-A
gnomAD v4: 3-165069067-G-A
MyVariant Identifiers: chr3:g.164786855G>A (hg19) chr3:g.165069067G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069067G>A , CM000665.2:g.165069067G>A GRCh38
NC_000003.11:g.164786855G>A , CM000665.1:g.164786855G>A GRCh37
NC_000003.10:g.166269549G>A NCBI36
NG_017043.1:g.14429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+11C>T MANE Select ENSP00000264382.3:n.373+11C>T
ENST00000264382.7:c.373+11C>T ENSP00000264382.3:n.373+11C>T
ENST00000476593.1:c.*248+11C>T ENSP00000419450.1:n.*248+11C>T
NM_001041.3:c.373+11C>T NP_001032.2:n.373+11C>T
XM_011513078.1:c.274+11C>T XP_011511380.1:n.274+11C>T
XM_011513078.2:c.274+11C>T XP_011511380.1:n.274+11C>T
NM_001041.4:c.373+11C>T MANE Select NP_001032.2:n.373+11C>T
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