Canonical Allele Identifier: CA376718376

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1523072
• ClinVar RCV Id: RCV002048823
• dbSNP Id: rs1341106554
• gnomAD v4: 10-49472386-T-C
• MyVariant Identifiers: chr10:g.50680432T>C (hg19) ; chr10:g.49472386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472386T>C , CM000672.2:g.49472386T>C	GRCh38
NC_000010.10:g.50680432T>C , CM000672.1:g.50680432T>C	GRCh37
NC_000010.9:g.50350438T>C	NCBI36
NG_009442.1:g.71716A>G , LRG_465:g.71716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2914A>G MANE Select	ENSP00000348089.5:p.Ile972Val
ENST00000681632.1:n.4317A>G
ENST00000681659.1:c.2755A>G	ENSP00000505631.1:p.Ile919Val
ENST00000355832.9:c.2914A>G	ENSP00000348089.5:p.Ile972Val
ENST00000623073.3:c.*1210A>G	ENSP00000485650.1:n.*1210A>G
ENST00000623115.3:c.1024A>G	ENSP00000485321.1:p.Ile342Val
ENST00000624341.3:c.746A>G
NM_000124.3:c.2914A>G	NP_000115.1:p.Ile972Val
XR_945953.1:n.690-317T>C
NM_001346440.1:c.2914A>G	NP_001333369.1:p.Ile972Val
NM_000124.4:c.2914A>G MANE Select	NP_000115.1:p.Ile972Val
NM_001346440.2:c.2914A>G	NP_001333369.1:p.Ile972Val