Canonical Allele Identifier: CA469600331

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1659432
• ClinVar RCV Id: RCV002178535
• dbSNP Id: rs779273831
• gnomAD v4: 10-49461438-G-C
• MyVariant Identifiers: chr10:g.50669484G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461438G>C , CM000672.2:g.49461438G>C	GRCh38
NC_000010.10:g.50669484G>C , CM000672.1:g.50669484G>C	GRCh37
NC_000010.9:g.50339490G>C	NCBI36
NG_009442.1:g.82664C>G , LRG_465:g.82664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3897C>G MANE Select	ENSP00000348089.5:p.Leu1299=
ENST00000679552.1:n.968C>G
ENST00000679871.1:n.1043C>G
ENST00000679974.1:n.946C>G
ENST00000681632.1:n.5300C>G
ENST00000681659.1:c.3738C>G	ENSP00000505631.1:p.Leu1246=
ENST00000355832.9:c.3897C>G	ENSP00000348089.5:p.Leu1299=
ENST00000465653.1:n.219C>G
ENST00000623073.3:c.*2193C>G	ENSP00000485650.1:n.*2193C>G
ENST00000623115.3:c.2007C>G	ENSP00000485321.1:p.Leu669=
ENST00000624341.3:c.1729C>G
NM_000124.3:c.3897C>G	NP_000115.1:p.Leu1299=
XR_945953.1:n.243-10127G>C
NM_001346440.1:c.3897C>G	NP_001333369.1:p.Leu1299=
NM_000124.4:c.3897C>G MANE Select	NP_000115.1:p.Leu1299=
NM_001346440.2:c.3897C>G	NP_001333369.1:p.Leu1299=