Canonical Allele Identifier: CA7820316
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3063821
ClinVar RCV Id: RCV003988409
dbSNP Id: rs373710655
ExAC: 16:1841020 G / A
gnomAD v2: 16-1841020-G-A
gnomAD v3: 16-1791019-G-A
gnomAD v4: 16-1791019-G-A
MyVariant Identifiers: chr16:g.1841020G>A (hg19) chr16:g.1791019G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1791019G>A , CM000678.2:g.1791019G>A GRCh38
NC_000016.9:g.1841020G>A , CM000678.1:g.1841020G>A GRCh37
NC_000016.8:g.1781021G>A NCBI36
NG_011778.1:g.7715C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.1399C>T (IGFALS) MANE Select ENSP00000215539.3:p.Arg467Cys
ENST00000215539.3:c.1399C>T (IGFALS) ENSP00000215539.3:p.Arg467Cys
ENST00000415638.3:c.1513C>T (IGFALS) ENSP00000416683.3:p.Arg505Cys
ENST00000569769.1:c.-13+2618C>T (SPSB3) ENSP00000455098.1:n.-13+2618C>T
NM_001146006.1:c.1513C>T (IGFALS) NP_001139478.1:p.Arg505Cys
NM_004970.2:c.1399C>T (IGFALS) NP_004961.1:p.Arg467Cys
NR_027389.1:n.1453C>T (IGFALS)
XM_011522476.1:c.1480C>T (IGFALS) XP_011520778.1:p.Arg494Cys
NM_001146006.2:c.1513C>T (IGFALS) NP_001139478.1:p.Arg505Cys
NM_004970.3:c.1399C>T (IGFALS) MANE Select NP_004961.1:p.Arg467Cys
Search 100 bp 5'
Search 100 bp 3'