Canonical Allele Identifier: CA206587510
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49473613T>G
GRCh37 chr10:g.50681659T>G
gnomAD v2:
10:50681659 T / G
gnomAD v3:
10:49473613 T / G
gnomAD v4:
chr10-49473613-T-G
Joint Max Group AF 0.00000477 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000249 (NFE)
ClinVar RCV:
RCV002179102
ClinVar Variation:
1662194
dbSNP:
4253196
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49473613T>G , CM000672.2:g.49473613T>G GRCh38
NC_000010.10:g.50681659T>G , CM000672.1:g.50681659T>G GRCh37
NC_000010.9:g.50351665T>G NCBI36
NG_009442.1:g.70489A>C , LRG_465:g.70489A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2599-26A>C MANE Select ENSP00000348089.5:n.2599-26A>C
ENST00000681632.1:n.3090A>C
ENST00000681659.1:c.2440-26A>C ENSP00000505631.1:n.2440-26A>C
ENST00000355832.9:c.2599-26A>C ENSP00000348089.5:n.2599-26A>C
ENST00000623073.3:c.*895-26A>C ENSP00000485650.1:n.*895-26A>C
ENST00000623115.3:c.709-26A>C ENSP00000485321.1:n.709-26A>C
ENST00000624341.3:c.431-26A>C
NM_000124.3:c.2599-26A>C NP_000115.1:n.2599-26A>C
NM_001346440.1:c.2599-26A>C NP_001333369.1:n.2599-26A>C
NM_000124.4:c.2599-26A>C MANE Select NP_000115.1:n.2599-26A>C
NM_001346440.2:c.2599-26A>C NP_001333369.1:n.2599-26A>C
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