Canonical Allele Identifier: CA593780398

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2170592
• ClinVar RCV Id: RCV003080613
• dbSNP Id: rs1218881511
• gnomAD v2: 10-50667284-T-C
• gnomAD v4: 10-49459238-T-C
• MyVariant Identifiers: chr10:g.50667284T>C (hg19) ; chr10:g.49459238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459238T>C , CM000672.2:g.49459238T>C	GRCh38
NC_000010.10:g.50667284T>C , CM000672.1:g.50667284T>C	GRCh37
NC_000010.9:g.50337290T>C	NCBI36
NG_009442.1:g.84864A>G , LRG_465:g.84864A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-4A>G MANE Select	ENSP00000348089.5:n.4063-4A>G
ENST00000679552.1:n.2268A>G
ENST00000679871.1:n.1209-4A>G
ENST00000679974.1:n.1112-4A>G
ENST00000681632.1:n.5466-4A>G
ENST00000681659.1:c.3904-4A>G	ENSP00000505631.1:n.3904-4A>G
ENST00000355832.9:c.4063-4A>G	ENSP00000348089.5:n.4063-4A>G
ENST00000623073.3:c.*2359-4A>G	ENSP00000485650.1:n.*2359-4A>G
ENST00000623115.3:c.2173-4A>G	ENSP00000485321.1:n.2173-4A>G
ENST00000624341.3:c.1895-4A>G
NM_000124.3:c.4063-4A>G	NP_000115.1:n.4063-4A>G
XR_945953.1:n.243-12327T>C
NM_001346440.1:c.4063-4A>G	NP_001333369.1:n.4063-4A>G
NM_000124.4:c.4063-4A>G MANE Select	NP_000115.1:n.4063-4A>G
NM_001346440.2:c.4063-4A>G	NP_001333369.1:n.4063-4A>G