Canonical Allele Identifier: CA240809

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 194695
• ClinVar RCV Id: RCV000175123 ; RCV000270778 ; RCV000363004 ; RCV000328199 ; RCV004537373
• dbSNP Id: rs41562713
• ExAC: 10:50679030 T / C
• gnomAD v2: 10-50679030-T-C
• gnomAD v3: 10-49470984-T-C
• gnomAD v4: 10-49470984-T-C
• MyVariant Identifiers: chr10:g.50679030T>C (hg19) ; chr10:g.49470984T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470984T>C , CM000672.2:g.49470984T>C	GRCh38
NC_000010.10:g.50679030T>C , CM000672.1:g.50679030T>C	GRCh37
NC_000010.9:g.50349036T>C	NCBI36
NG_009442.1:g.73118A>G , LRG_465:g.73118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3061A>G MANE Select	ENSP00000348089.5:p.Ile1021Val
ENST00000679552.1:n.142-95A>G
ENST00000679871.1:n.207A>G
ENST00000679974.1:n.120-95A>G
ENST00000681632.1:n.4464A>G
ENST00000681659.1:c.2902A>G	ENSP00000505631.1:p.Ile968Val
ENST00000355832.9:c.3061A>G	ENSP00000348089.5:p.Ile1021Val
ENST00000623073.3:c.*1357A>G	ENSP00000485650.1:n.*1357A>G
ENST00000623115.3:c.1171A>G	ENSP00000485321.1:p.Ile391Val
ENST00000624341.3:c.893A>G
NM_000124.3:c.3061A>G	NP_000115.1:p.Ile1021Val
XR_945953.1:n.243-581T>C
NM_001346440.1:c.3061A>G	NP_001333369.1:p.Ile1021Val
NM_000124.4:c.3061A>G MANE Select	NP_000115.1:p.Ile1021Val
NM_001346440.2:c.3061A>G	NP_001333369.1:p.Ile1021Val