Canonical Allele Identifier: CA376717269

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1493376
• ClinVar RCV Id: RCV001984326
• dbSNP Id: rs748423645
• gnomAD v4: 10-49470974-C-T
• MyVariant Identifiers: chr10:g.50679020C>T (hg19) ; chr10:g.49470974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470974C>T , CM000672.2:g.49470974C>T	GRCh38
NC_000010.10:g.50679020C>T , CM000672.1:g.50679020C>T	GRCh37
NC_000010.9:g.50349026C>T	NCBI36
NG_009442.1:g.73128G>A , LRG_465:g.73128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3070+1G>A MANE Select	ENSP00000348089.5:n.3070+1G>A
ENST00000679552.1:n.142-85G>A
ENST00000679871.1:n.216+1G>A
ENST00000679974.1:n.120-85G>A
ENST00000681632.1:n.4473+1G>A
ENST00000681659.1:c.2911+1G>A	ENSP00000505631.1:n.2911+1G>A
ENST00000355832.9:c.3070+1G>A	ENSP00000348089.5:n.3070+1G>A
ENST00000623073.3:c.*1366+1G>A	ENSP00000485650.1:n.*1366+1G>A
ENST00000623115.3:c.1180+1G>A	ENSP00000485321.1:n.1180+1G>A
ENST00000624341.3:c.902+1G>A
NM_000124.3:c.3070+1G>A	NP_000115.1:n.3070+1G>A
XR_945953.1:n.243-591C>T
NM_001346440.1:c.3070+1G>A	NP_001333369.1:n.3070+1G>A
NM_000124.4:c.3070+1G>A MANE Select	NP_000115.1:n.3070+1G>A
NM_001346440.2:c.3070+1G>A	NP_001333369.1:n.3070+1G>A