Canonical Allele Identifier: CA593780400

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2698744
• ClinVar RCV Id: RCV003551896
• dbSNP Id: rs1248999807
• gnomAD v2: 10-50667296-C-T
• gnomAD v3: 10-49459250-C-T
• gnomAD v4: 10-49459250-C-T
• MyVariant Identifiers: chr10:g.50667296C>T (hg19) ; chr10:g.49459250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459250C>T , CM000672.2:g.49459250C>T	GRCh38
NC_000010.10:g.50667296C>T , CM000672.1:g.50667296C>T	GRCh37
NC_000010.9:g.50337302C>T	NCBI36
NG_009442.1:g.84852G>A , LRG_465:g.84852G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-16G>A MANE Select	ENSP00000348089.5:n.4063-16G>A
ENST00000679552.1:n.2256G>A
ENST00000679871.1:n.1209-16G>A
ENST00000679974.1:n.1112-16G>A
ENST00000681632.1:n.5466-16G>A
ENST00000681659.1:c.3904-16G>A	ENSP00000505631.1:n.3904-16G>A
ENST00000355832.9:c.4063-16G>A	ENSP00000348089.5:n.4063-16G>A
ENST00000623073.3:c.*2359-16G>A	ENSP00000485650.1:n.*2359-16G>A
ENST00000623115.3:c.2173-16G>A	ENSP00000485321.1:n.2173-16G>A
ENST00000624341.3:c.1895-16G>A
NM_000124.3:c.4063-16G>A	NP_000115.1:n.4063-16G>A
XR_945953.1:n.243-12315C>T
NM_001346440.1:c.4063-16G>A	NP_001333369.1:n.4063-16G>A
NM_000124.4:c.4063-16G>A MANE Select	NP_000115.1:n.4063-16G>A
NM_001346440.2:c.4063-16G>A	NP_001333369.1:n.4063-16G>A