Canonical Allele Identifier: CA7820292
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307809
ClinVar RCV Id: RCV001772664
dbSNP Id: rs544452737
ExAC: 16:1840942 G / A
gnomAD v2: 16-1840942-G-A
gnomAD v3: 16-1790941-G-A
gnomAD v4: 16-1790941-G-A
MyVariant Identifiers: chr16:g.1840942G>A (hg19) chr16:g.1790941G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790941G>A , CM000678.2:g.1790941G>A GRCh38
NC_000016.9:g.1840942G>A , CM000678.1:g.1840942G>A GRCh37
NC_000016.8:g.1780943G>A NCBI36
NG_011778.1:g.7793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1477C>T (IGFALS) MANE Select ENSP00000215539.3:p.Arg493Cys
ENST00000215539.3:c.1477C>T (IGFALS) ENSP00000215539.3:p.Arg493Cys
ENST00000415638.3:c.1591C>T (IGFALS) ENSP00000416683.3:p.Arg531Cys
ENST00000569769.1:c.-13+2696C>T (SPSB3) ENSP00000455098.1:n.-13+2696C>T
NM_001146006.1:c.1591C>T (IGFALS) NP_001139478.1:p.Arg531Cys
NM_004970.2:c.1477C>T (IGFALS) NP_004961.1:p.Arg493Cys
NR_027389.1:n.1531C>T (IGFALS)
XM_011522476.1:c.1558C>T (IGFALS) XP_011520778.1:p.Arg520Cys
NM_001146006.2:c.1591C>T (IGFALS) NP_001139478.1:p.Arg531Cys
NM_004970.3:c.1477C>T (IGFALS) MANE Select NP_004961.1:p.Arg493Cys
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Search 100 bp 3'