Canonical Allele Identifier: CA5495236

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1932017
• ClinVar RCV Id: RCV002622357
• dbSNP Id: rs375878979
• ExAC: 10:50669476 T / C
• gnomAD v2: 10-50669476-T-C
• gnomAD v3: 10-49461430-T-C
• gnomAD v4: 10-49461430-T-C
• MyVariant Identifiers: chr10:g.50669476T>C (hg19) ; chr10:g.49461430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461430T>C , CM000672.2:g.49461430T>C	GRCh38
NC_000010.10:g.50669476T>C , CM000672.1:g.50669476T>C	GRCh37
NC_000010.9:g.50339482T>C	NCBI36
NG_009442.1:g.82672A>G , LRG_465:g.82672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3905A>G MANE Select	ENSP00000348089.5:p.Gln1302Arg
ENST00000679552.1:n.976A>G
ENST00000679871.1:n.1051A>G
ENST00000679974.1:n.954A>G
ENST00000681632.1:n.5308A>G
ENST00000681659.1:c.3746A>G	ENSP00000505631.1:p.Gln1249Arg
ENST00000355832.9:c.3905A>G	ENSP00000348089.5:p.Gln1302Arg
ENST00000465653.1:n.227A>G
ENST00000623073.3:c.*2201A>G	ENSP00000485650.1:n.*2201A>G
ENST00000623115.3:c.2015A>G	ENSP00000485321.1:p.Gln672Arg
ENST00000624341.3:c.1737A>G
NM_000124.3:c.3905A>G	NP_000115.1:p.Gln1302Arg
XR_945953.1:n.243-10135T>C
NM_001346440.1:c.3905A>G	NP_001333369.1:p.Gln1302Arg
NM_000124.4:c.3905A>G MANE Select	NP_000115.1:p.Gln1302Arg
NM_001346440.2:c.3905A>G	NP_001333369.1:p.Gln1302Arg