Canonical Allele Identifier: CA5495653

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300067
• ClinVar RCV Id: RCV000273288 ; RCV000309721 ; RCV000367782 ; RCV001546942 ; RCV004537691
• dbSNP Id: rs146043988
• ExAC: 10:50682281 G / C
• gnomAD v2: 10-50682281-G-C
• gnomAD v3: 10-49474235-G-C
• gnomAD v4: 10-49474235-G-C
• MyVariant Identifiers: chr10:g.50682281G>C (hg19) ; chr10:g.49474235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474235G>C , CM000672.2:g.49474235G>C	GRCh38
NC_000010.10:g.50682281G>C , CM000672.1:g.50682281G>C	GRCh37
NC_000010.9:g.50352287G>C	NCBI36
NG_009442.1:g.69867C>G , LRG_465:g.69867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2390C>G MANE Select	ENSP00000348089.5:p.Ser797Cys
ENST00000681632.1:n.2468C>G
ENST00000681659.1:c.2231C>G	ENSP00000505631.1:p.Ser744Cys
ENST00000355832.9:c.2390C>G	ENSP00000348089.5:p.Ser797Cys
ENST00000623073.3:c.*686C>G	ENSP00000485650.1:n.*686C>G
ENST00000623115.3:c.500C>G	ENSP00000485321.1:p.Ser167Cys
ENST00000624341.3:c.222C>G
NM_000124.3:c.2390C>G	NP_000115.1:p.Ser797Cys
NM_001346440.1:c.2390C>G	NP_001333369.1:p.Ser797Cys
NM_000124.4:c.2390C>G MANE Select	NP_000115.1:p.Ser797Cys
NM_001346440.2:c.2390C>G	NP_001333369.1:p.Ser797Cys