Canonical Allele Identifier: CA5495855
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49493110G>T
GRCh37 chr10:g.50701156G>T
gnomAD v2:
10:50701156 G / T
gnomAD v3:
10:49493110 G / T
gnomAD v4:
chr10-49493110-G-T
Joint Max Group AF 0.00001144 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
ClinVar Allele:
787588
ClinVar RCV:
RCV000977214
ClinVar Variation:
793992
dbSNP:
4253132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493110G>T , CM000672.2:g.49493110G>T GRCh38
NC_000010.10:g.50701156G>T , CM000672.1:g.50701156G>T GRCh37
NC_000010.9:g.50371162G>T NCBI36
NG_009442.1:g.50992C>A , LRG_465:g.50992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1821+7C>A MANE Select ENSP00000348089.5:n.1821+7C>A
ENST00000681632.1:n.1899+7C>A
ENST00000681659.1:c.1662+7C>A ENSP00000505631.1:n.1662+7C>A
ENST00000355832.9:c.1821+7C>A ENSP00000348089.5:n.1821+7C>A
ENST00000475116.1:n.275+7428C>A
ENST00000623073.3:c.222+7C>A ENSP00000485650.1:n.222+7C>A
ENST00000623115.3:c.-70+7428C>A ENSP00000485321.1:n.-70+7428C>A
ENST00000623318.1:c.222+7C>A ENSP00000485423.1:n.222+7C>A
NM_000124.3:c.1821+7C>A NP_000115.1:n.1821+7C>A
NM_001346440.1:c.1821+7C>A NP_001333369.1:n.1821+7C>A
NM_000124.4:c.1821+7C>A MANE Select NP_000115.1:n.1821+7C>A
NM_001346440.2:c.1821+7C>A NP_001333369.1:n.1821+7C>A
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