Canonical Allele Identifier: CA376712784

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1961647
• ClinVar RCV Id: RCV002734900
• MyVariant Identifiers: chr10:g.50678306G>C (hg19) ; chr10:g.49470260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470260G>C , CM000672.2:g.49470260G>C	GRCh38
NC_000010.10:g.50678306G>C , CM000672.1:g.50678306G>C	GRCh37
NC_000010.9:g.50348312G>C	NCBI36
NG_009442.1:g.73842C>G , LRG_465:g.73842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3700C>G MANE Select	ENSP00000348089.5:p.Gln1234Glu
ENST00000679552.1:n.771C>G
ENST00000679871.1:n.846C>G
ENST00000679974.1:n.749C>G
ENST00000681632.1:n.5103C>G
ENST00000681659.1:c.3541C>G	ENSP00000505631.1:p.Gln1181Glu
ENST00000355832.9:c.3700C>G	ENSP00000348089.5:p.Gln1234Glu
ENST00000465653.1:n.22C>G
ENST00000623073.3:c.*1996C>G	ENSP00000485650.1:n.*1996C>G
ENST00000623115.3:c.1810C>G	ENSP00000485321.1:p.Gln604Glu
ENST00000624341.3:c.1532C>G
NM_000124.3:c.3700C>G	NP_000115.1:p.Gln1234Glu
XR_945953.1:n.243-1305G>C
NM_001346440.1:c.3700C>G	NP_001333369.1:p.Gln1234Glu
NM_000124.4:c.3700C>G MANE Select	NP_000115.1:p.Gln1234Glu
NM_001346440.2:c.3700C>G	NP_001333369.1:p.Gln1234Glu