Canonical Allele Identifier: CA376713244

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1918768
• ClinVar RCV Id: RCV002617350
• dbSNP Id: rs1421008948
• gnomAD v2: 10-50678378-T-C
• gnomAD v3: 10-49470332-T-C
• gnomAD v4: 10-49470332-T-C
• MyVariant Identifiers: chr10:g.50678378T>C (hg19) ; chr10:g.49470332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470332T>C , CM000672.2:g.49470332T>C	GRCh38
NC_000010.10:g.50678378T>C , CM000672.1:g.50678378T>C	GRCh37
NC_000010.9:g.50348384T>C	NCBI36
NG_009442.1:g.73770A>G , LRG_465:g.73770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3628A>G MANE Select	ENSP00000348089.5:p.Lys1210Glu
ENST00000679552.1:n.699A>G
ENST00000679871.1:n.774A>G
ENST00000679974.1:n.677A>G
ENST00000681632.1:n.5031A>G
ENST00000681659.1:c.3469A>G	ENSP00000505631.1:p.Lys1157Glu
ENST00000355832.9:c.3628A>G	ENSP00000348089.5:p.Lys1210Glu
ENST00000623073.3:c.*1924A>G	ENSP00000485650.1:n.*1924A>G
ENST00000623115.3:c.1738A>G	ENSP00000485321.1:p.Lys580Glu
ENST00000624341.3:c.1460A>G
NM_000124.3:c.3628A>G	NP_000115.1:p.Lys1210Glu
XR_945953.1:n.243-1233T>C
NM_001346440.1:c.3628A>G	NP_001333369.1:p.Lys1210Glu
NM_000124.4:c.3628A>G MANE Select	NP_000115.1:p.Lys1210Glu
NM_001346440.2:c.3628A>G	NP_001333369.1:p.Lys1210Glu