Canonical Allele Identifier: CA15108600
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
COSMIC:
COSN19613944 (not active)
MyVariant.info:
GRCh38 chr1:g.169729780C>T
GRCh37 chr1:g.169698921C>T
gnomAD v2:
1:169698921 C / T
gnomAD v3:
1:169729780 C / T
gnomAD v4:
chr1-169729780-C-T
Joint Max Group AF 0.45093555 (MID)
Genomes Max Group AF 0.40784117 (NFE)
Exomes Max Group AF 0.44911308 (MID)
dbSNP:
2076059
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169729780C>T , CM000663.2:g.169729780C>T GRCh38
NC_000001.10:g.169698921C>T , CM000663.1:g.169698921C>T GRCh37
NC_000001.9:g.167965545C>T NCBI36
NG_012124.1:g.9300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.716-107G>A (SELE) MANE Select ENSP00000331736.7:n.716-107G>A
ENST00000333360.11:c.716-107G>A (SELE) ENSP00000331736.7:n.716-107G>A
ENST00000367774.1:c.716-107G>A (SELE) ENSP00000356748.1:n.716-107G>A
ENST00000367775.5:c.530-107G>A (SELE) ENSP00000356749.1:n.530-107G>A
ENST00000367776.5:c.716-107G>A (SELE) ENSP00000356750.1:n.716-107G>A
ENST00000367777.5:c.716-107G>A (SELE) ENSP00000356751.1:n.716-107G>A
ENST00000498289.5:n.851+45848C>T (FIRRM)
NM_000450.2:c.716-107G>A (SELE) MANE Select NP_000441.2:n.716-107G>A
Search 100 bp 5'
Search 100 bp 3'