Canonical Allele Identifier: CA469789020

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1126696
• ClinVar RCV Id: RCV001458853
• dbSNP Id: rs1454282398
• gnomAD v2: 10-50679067-A-C
• gnomAD v4: 10-49471021-A-C
• MyVariant Identifiers: chr10:g.50679067A>C (hg19) ; chr10:g.49471021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471021A>C , CM000672.2:g.49471021A>C	GRCh38
NC_000010.10:g.50679067A>C , CM000672.1:g.50679067A>C	GRCh37
NC_000010.9:g.50349073A>C	NCBI36
NG_009442.1:g.73081T>G , LRG_465:g.73081T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3024T>G MANE Select	ENSP00000348089.5:p.Thr1008=
ENST00000679552.1:n.142-132T>G
ENST00000679871.1:n.170T>G
ENST00000679974.1:n.120-132T>G
ENST00000681632.1:n.4427T>G
ENST00000681659.1:c.2865T>G	ENSP00000505631.1:p.Thr955=
ENST00000355832.9:c.3024T>G	ENSP00000348089.5:p.Thr1008=
ENST00000623073.3:c.*1320T>G	ENSP00000485650.1:n.*1320T>G
ENST00000623115.3:c.1134T>G	ENSP00000485321.1:p.Thr378=
ENST00000624341.3:c.856T>G
NM_000124.3:c.3024T>G	NP_000115.1:p.Thr1008=
XR_945953.1:n.243-544A>C
NM_001346440.1:c.3024T>G	NP_001333369.1:p.Thr1008=
NM_000124.4:c.3024T>G MANE Select	NP_000115.1:p.Thr1008=
NM_001346440.2:c.3024T>G	NP_001333369.1:p.Thr1008=