Canonical Allele Identifier: CA7820274
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318236
ClinVar RCV Id: RCV000331677
dbSNP Id: rs2230053
gnomAD v2: 16-1840853-C-T
gnomAD v3: 16-1790852-C-T
gnomAD v4: 16-1790852-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790852C>T , CM000678.2:g.1790852C>T GRCh38
NC_000016.9:g.1840853C>T , CM000678.1:g.1840853C>T GRCh37
NC_000016.8:g.1780854C>T NCBI36
NG_011778.1:g.7882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1566G>A (IGFALS) MANE Select ENSP00000215539.3:p.Thr522=
ENST00000215539.3:c.1566G>A (IGFALS) ENSP00000215539.3:p.Thr522=
ENST00000415638.3:c.1680G>A (IGFALS) ENSP00000416683.3:p.Thr560=
ENST00000569769.1:c.-13+2785G>A (SPSB3) ENSP00000455098.1:n.-13+2785G>A
NM_001146006.1:c.1680G>A (IGFALS) NP_001139478.1:p.Thr560=
NM_004970.2:c.1566G>A (IGFALS) NP_004961.1:p.Thr522=
NR_027389.1:n.1620G>A (IGFALS)
XM_011522476.1:c.1647G>A (IGFALS) XP_011520778.1:p.Thr549=
NM_001146006.2:c.1680G>A (IGFALS) NP_001139478.1:p.Thr560=
NM_004970.3:c.1566G>A (IGFALS) MANE Select NP_004961.1:p.Thr522=