Canonical Allele Identifier: CA593367533

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2780679
• ClinVar RCV Id: RCV003659543
• dbSNP Id: rs1379272518
• gnomAD v2: 10-50701154-T-C
• gnomAD v4: 10-49493108-T-C
• MyVariant Identifiers: chr10:g.50701154T>C (hg19) ; chr10:g.49493108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493108T>C , CM000672.2:g.49493108T>C	GRCh38
NC_000010.10:g.50701154T>C , CM000672.1:g.50701154T>C	GRCh37
NC_000010.9:g.50371160T>C	NCBI36
NG_009442.1:g.50994A>G , LRG_465:g.50994A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+9A>G MANE Select	ENSP00000348089.5:n.1821+9A>G
ENST00000681632.1:n.1899+9A>G
ENST00000681659.1:c.1662+9A>G	ENSP00000505631.1:n.1662+9A>G
ENST00000355832.9:c.1821+9A>G	ENSP00000348089.5:n.1821+9A>G
ENST00000475116.1:n.275+7430A>G
ENST00000623073.3:c.222+9A>G	ENSP00000485650.1:n.222+9A>G
ENST00000623115.3:c.-70+7430A>G	ENSP00000485321.1:n.-70+7430A>G
ENST00000623318.1:c.222+9A>G	ENSP00000485423.1:n.222+9A>G
NM_000124.3:c.1821+9A>G	NP_000115.1:n.1821+9A>G
NM_001346440.1:c.1821+9A>G	NP_001333369.1:n.1821+9A>G
NM_000124.4:c.1821+9A>G MANE Select	NP_000115.1:n.1821+9A>G
NM_001346440.2:c.1821+9A>G	NP_001333369.1:n.1821+9A>G