Canonical Allele Identifier: CA5495764

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300073
• ClinVar RCV Id: RCV000308072 ; RCV000362821 ; RCV000395741 ; RCV002520597 ; RCV002480092
• dbSNP Id: rs369437807
• ExAC: 10:50690777 C / T
• gnomAD v2: 10-50690777-C-T
• gnomAD v3: 10-49482731-C-T
• gnomAD v4: 10-49482731-C-T
• COSMIC: COSM4014449
• MyVariant Identifiers: chr10:g.50690777C>T (hg19) ; chr10:g.49482731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482731C>T , CM000672.2:g.49482731C>T	GRCh38
NC_000010.10:g.50690777C>T , CM000672.1:g.50690777C>T	GRCh37
NC_000010.9:g.50360783C>T	NCBI36
NG_009442.1:g.61371G>A , LRG_465:g.61371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2125G>A MANE Select	ENSP00000348089.5:p.Val709Ile
ENST00000681632.1:n.2203G>A
ENST00000681659.1:c.1966G>A	ENSP00000505631.1:p.Val656Ile
ENST00000355832.9:c.2125G>A	ENSP00000348089.5:p.Val709Ile
ENST00000623073.3:c.*517G>A	ENSP00000485650.1:n.*517G>A
ENST00000623115.3:c.235G>A	ENSP00000485321.1:p.Val79Ile
NM_000124.3:c.2125G>A	NP_000115.1:p.Val709Ile
NM_001346440.1:c.2125G>A	NP_001333369.1:p.Val709Ile
NM_000124.4:c.2125G>A MANE Select	NP_000115.1:p.Val709Ile
NM_001346440.2:c.2125G>A	NP_001333369.1:p.Val709Ile