Canonical Allele Identifier: CA2664937
Gene: ERICH6 HGNC NCBI
ClinVar RCV:
RCV004293393
ClinVar Variation:
2513001
dbSNP:
370477652
gnomAD v2:
3:150377858 G / A
gnomAD v3:
3:150660071 G / A
gnomAD v4:
chr3-150660071-G-A
Joint Max Group AF 0.00035972 (SAS)
Genomes Max Group AF 0.00007299 (SAS)
Exomes Max Group AF 0.00035951 (SAS)
MyVariant.info:
GRCh38 chr3:g.150660071G>A
GRCh37 chr3:g.150377858G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150660071G>A , CM000665.2:g.150660071G>A GRCh38
NC_000003.11:g.150377858G>A , CM000665.1:g.150377858G>A GRCh37
NC_000003.10:g.151860548G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295910.11:c.1813C>T MANE Select ENSP00000295910.6:p.Arg605Cys
ENST00000295910.10:c.1813C>T ENSP00000295910.6:p.Arg605Cys
ENST00000491361.5:c.1375C>T ENSP00000419366.1:p.Arg459Cys
ENST00000491716.1:n.1033C>T
NM_001308234.1:c.1375C>T NP_001295163.1:p.Arg459Cys
NM_152394.4:c.1813C>T NP_689607.2:p.Arg605Cys
XM_005247120.3:c.*45C>T XP_005247177.1:n.*45C>T
NM_152394.5:c.1813C>T MANE Select NP_689607.2:p.Arg605Cys
NM_001308234.2:c.1375C>T NP_001295163.1:p.Arg459Cys
Search 100 bp 5'
Search 100 bp 3'