Canonical Allele Identifier: CA7820197
Gene: IGFALS HGNC NCBI
SPSB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 884385
ClinVar RCV Id: RCV001115430
dbSNP Id: rs746231566
ExAC: 16:1840578 G / A
gnomAD v2: 16-1840578-G-A
gnomAD v3: 16-1790577-G-A
gnomAD v4: 16-1790577-G-A
MyVariant Identifiers: chr16:g.1840578G>A (hg19) chr16:g.1790577G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1790577G>A , CM000678.2:g.1790577G>A GRCh38
NC_000016.9:g.1840578G>A , CM000678.1:g.1840578G>A GRCh37
NC_000016.8:g.1780579G>A NCBI36
NG_011778.1:g.8157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215539.4:c.*23C>T (IGFALS) MANE Select ENSP00000215539.3:n.*23C>T
ENST00000215539.3:c.*23C>T (IGFALS) ENSP00000215539.3:n.*23C>T
ENST00000415638.3:c.*23C>T (IGFALS) ENSP00000416683.3:n.*23C>T
ENST00000569769.1:c.-13+3060C>T (SPSB3) ENSP00000455098.1:n.-13+3060C>T
NM_001146006.1:c.*23C>T (IGFALS) NP_001139478.1:n.*23C>T
NM_004970.2:c.*23C>T (IGFALS) NP_004961.1:n.*23C>T
NR_027389.1:n.1895C>T (IGFALS)
XM_011522476.1:c.*23C>T (IGFALS) XP_011520778.1:n.*23C>T
NM_001146006.2:c.*23C>T (IGFALS) NP_001139478.1:n.*23C>T
NM_004970.3:c.*23C>T (IGFALS) MANE Select NP_004961.1:n.*23C>T
Search 100 bp 5'
Search 100 bp 3'