Canonical Allele Identifier: CA5495399

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2154067
• ClinVar RCV Id: RCV003081600
• dbSNP Id: rs765012066
• ExAC: 10:50678849 G / A
• gnomAD v2: 10-50678849-G-A
• gnomAD v3: 10-49470803-G-A
• gnomAD v4: 10-49470803-G-A
• COSMIC: COSM4014442
• MyVariant Identifiers: chr10:g.50678849G>A (hg19) ; chr10:g.49470803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470803G>A , CM000672.2:g.49470803G>A	GRCh38
NC_000010.10:g.50678849G>A , CM000672.1:g.50678849G>A	GRCh37
NC_000010.9:g.50348855G>A	NCBI36
NG_009442.1:g.73299C>T , LRG_465:g.73299C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3157C>T MANE Select	ENSP00000348089.5:p.Arg1053Cys
ENST00000679552.1:n.228C>T
ENST00000679871.1:n.303C>T
ENST00000679974.1:n.206C>T
ENST00000681632.1:n.4560C>T
ENST00000681659.1:c.2998C>T	ENSP00000505631.1:p.Arg1000Cys
ENST00000355832.9:c.3157C>T	ENSP00000348089.5:p.Arg1053Cys
ENST00000623073.3:c.*1453C>T	ENSP00000485650.1:n.*1453C>T
ENST00000623115.3:c.1267C>T	ENSP00000485321.1:p.Arg423Cys
ENST00000624341.3:c.989C>T
NM_000124.3:c.3157C>T	NP_000115.1:p.Arg1053Cys
XR_945953.1:n.243-762G>A
NM_001346440.1:c.3157C>T	NP_001333369.1:p.Arg1053Cys
NM_000124.4:c.3157C>T MANE Select	NP_000115.1:p.Arg1053Cys
NM_001346440.2:c.3157C>T	NP_001333369.1:p.Arg1053Cys