Canonical Allele Identifier: CA644622
Gene: IGSF21 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18365266T>C
GRCh37 chr1:g.18691760T>C
Revel Score:
ENST00000251296 (MANE Select) 0.161
gnomAD v2:
1:18691760 T / C
gnomAD v3:
1:18365266 T / C
gnomAD v4:
chr1-18365266-T-C
Joint Max Group AF 0.00004376 (AFR)
Genomes Max Group AF 0.00006288 (AFR)
ClinVar Allele:
2299193
ClinVar RCV:
RCV004152531
ClinVar Variation:
2302939
dbSNP:
370798003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18365266T>C , CM000663.2:g.18365266T>C GRCh38
NC_000001.10:g.18691760T>C , CM000663.1:g.18691760T>C GRCh37
NC_000001.9:g.18564347T>C NCBI36
NG_027535.1:g.262521T>C
NG_027535.2:g.262521T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251296.4:c.584T>C MANE Select ENSP00000251296.1:p.Leu195Pro
ENST00000251296.3:c.584T>C ENSP00000251296.1:p.Leu195Pro
ENST00000412684.3:n.441T>C
ENST00000497331.2:n.908T>C
NM_032880.4:c.584T>C NP_116269.3:p.Leu195Pro
XM_011542318.1:c.566T>C XP_011540620.1:p.Leu189Pro
XM_011542319.1:c.425-11044T>C XP_011540621.1:n.425-11044T>C
XM_011542319.3:c.425-11044T>C XP_011540621.1:n.425-11044T>C
XM_017002604.2:c.566T>C XP_016858093.1:p.Leu189Pro
XM_017002605.1:c.353T>C XP_016858094.1:p.Leu118Pro
XM_024450444.1:c.425T>C XP_024306212.1:p.Leu142Pro
NM_032880.5:c.584T>C MANE Select NP_116269.3:p.Leu195Pro
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