Canonical Allele Identifier: CA276742891

Gene: IGFALS SPSB3

Linked Data

• ClinVar Variation Id: 3108588
• ClinVar RCV Id: RCV004402473
• dbSNP Id: rs940549283
• gnomAD v2: 16-1840972-G-A
• gnomAD v3: 16-1790971-G-A
• gnomAD v4: 16-1790971-G-A
• MyVariant Identifiers: chr16:g.1840972G>A (hg19) ; chr16:g.1790971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1790971G>A , CM000678.2:g.1790971G>A	GRCh38
NC_000016.9:g.1840972G>A , CM000678.1:g.1840972G>A	GRCh37
NC_000016.8:g.1780973G>A	NCBI36
NG_011778.1:g.7763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215539.4:c.1447C>T (IGFALS) MANE Select	ENSP00000215539.3:p.Arg483Trp
ENST00000215539.3:c.1447C>T (IGFALS)	ENSP00000215539.3:p.Arg483Trp
ENST00000415638.3:c.1561C>T (IGFALS)	ENSP00000416683.3:p.Arg521Trp
ENST00000569769.1:c.-13+2666C>T (SPSB3)	ENSP00000455098.1:n.-13+2666C>T
NM_001146006.1:c.1561C>T (IGFALS)	NP_001139478.1:p.Arg521Trp
NM_004970.2:c.1447C>T (IGFALS)	NP_004961.1:p.Arg483Trp
NR_027389.1:n.1501C>T (IGFALS)
XM_011522476.1:c.1528C>T (IGFALS)	XP_011520778.1:p.Arg510Trp
NM_001146006.2:c.1561C>T (IGFALS)	NP_001139478.1:p.Arg521Trp
NM_004970.3:c.1447C>T (IGFALS) MANE Select	NP_004961.1:p.Arg483Trp