Canonical Allele Identifier: CA126809
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
COSMIC:
COSM146677 (not active)
MyVariant.info:
GRCh38 chr1:g.169727805G>A
GRCh37 chr1:g.169696946G>A
Revel Score:
ENST00000367781 0.176
ENST00000367780 0.176
ENST00000333360 (MANE Select) 0.176
ENST00000367775 0.176
ENST00000367776 0.176
gnomAD v2:
1:169696946 G / A
gnomAD v3:
1:169727805 G / A
gnomAD v4:
chr1-169727805-G-A
Joint Max Group AF 0.26138416 (AMR)
Genomes Max Group AF 0.19837035 (EAS)
Exomes Max Group AF 0.28444229 (AMR)
ClinVar RCV:
RCV000018147
ClinVar Variation:
16667
dbSNP:
5368
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169727805G>A , CM000663.2:g.169727805G>A GRCh38
NC_000001.10:g.169696946G>A , CM000663.1:g.169696946G>A GRCh37
NC_000001.9:g.167963570G>A NCBI36
NG_012124.1:g.11275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.1402C>T (SELE) MANE Select ENSP00000331736.7:p.His468Tyr
ENST00000333360.11:c.1402C>T (SELE) ENSP00000331736.7:p.His468Tyr
ENST00000367774.1:c.1091-280C>T (SELE) ENSP00000356748.1:n.1091-280C>T
ENST00000367775.5:c.1027C>T (SELE) ENSP00000356749.1:p.His343Tyr
ENST00000367776.5:c.1213C>T (SELE) ENSP00000356750.1:p.His405Tyr
ENST00000367777.5:c.1279+253C>T (SELE) ENSP00000356751.1:n.1279+253C>T
ENST00000498289.5:n.851+43873G>A (FIRRM)
NM_000450.2:c.1402C>T (SELE) MANE Select NP_000441.2:p.His468Tyr
Search 100 bp 5'
Search 100 bp 3'