Canonical Allele Identifier: CA2689627

Gene: SI

Linked Data

• ClinVar Variation Id: 344001
• ClinVar RCV Id: RCV000381023 ; RCV001510219
• dbSNP Id: rs6799858
• ExAC: 3:164704918 G / A
• gnomAD v2: 3-164704918-G-A
• gnomAD v3: 3-164987130-G-A
• gnomAD v4: 3-164987130-G-A
• MyVariant Identifiers: chr3:g.164704918G>A (hg19) ; chr3:g.164987130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.164987130G>A , CM000665.2:g.164987130G>A	GRCh38
NC_000003.11:g.164704918G>A , CM000665.1:g.164704918G>A	GRCh37
NC_000003.10:g.166187612G>A	NCBI36
NG_017043.1:g.96366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264382.8:c.5197+8C>T MANE Select	ENSP00000264382.3:n.5197+8C>T
ENST00000264382.7:c.5197+8C>T	ENSP00000264382.3:n.5197+8C>T
NM_001041.3:c.5197+8C>T	NP_001032.2:n.5197+8C>T
XM_011513078.1:c.5098+8C>T	XP_011511380.1:n.5098+8C>T
XM_011513078.2:c.5098+8C>T	XP_011511380.1:n.5098+8C>T
NM_001041.4:c.5197+8C>T MANE Select	NP_001032.2:n.5197+8C>T