Canonical Allele Identifier: CA1235945
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169725794G>C
GRCh37 chr1:g.169694935G>C
Revel Score:
ENST00000367781 0.064
ENST00000367782 0.064
ENST00000367780 0.064
ENST00000367779 0.064
ENST00000333360 (MANE Select) 0.064
ENST00000367777 0.064
ENST00000367775 0.064
ENST00000367776 0.064
ENST00000367774 0.064
gnomAD v2:
1:169694935 G / C
gnomAD v3:
1:169725794 G / C
gnomAD v4:
chr1-169725794-G-C
Joint Max Group AF 0.00031705 (AMR)
Genomes Max Group AF 0.00045253 (AMR)
Exomes Max Group AF 0.00020649 (AMR)
ClinVar RCV:
RCV004182027
ClinVar Variation:
2345614
dbSNP:
201045157
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169725794G>C , CM000663.2:g.169725794G>C GRCh38
NC_000001.10:g.169694935G>C , CM000663.1:g.169694935G>C GRCh37
NC_000001.9:g.167961559G>C NCBI36
NG_012124.1:g.13286C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.1783C>G (SELE) MANE Select ENSP00000331736.7:p.Gln595Glu
ENST00000333360.11:c.1783C>G (SELE) ENSP00000331736.7:p.Gln595Glu
ENST00000367774.1:c.1405C>G (SELE) ENSP00000356748.1:p.Gln469Glu
ENST00000367775.5:c.1408C>G (SELE) ENSP00000356749.1:p.Gln470Glu
ENST00000367776.5:c.1594C>G (SELE) ENSP00000356750.1:p.Gln532Glu
ENST00000367777.5:c.1594C>G (SELE) ENSP00000356751.1:p.Gln532Glu
ENST00000498289.5:n.851+41862G>C (FIRRM)
NM_000450.2:c.1783C>G (SELE) MANE Select NP_000441.2:p.Gln595Glu
Search 100 bp 5'
Search 100 bp 3'