Canonical Allele Identifier: CA469789218

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1121154
• ClinVar RCV Id: RCV001451350
• dbSNP Id: rs1476500969
• gnomAD v2: 10-50678919-A-C
• gnomAD v4: 10-49470873-A-C
• MyVariant Identifiers: chr10:g.50678919A>C (hg19) ; chr10:g.49470873A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470873A>C , CM000672.2:g.49470873A>C	GRCh38
NC_000010.10:g.50678919A>C , CM000672.1:g.50678919A>C	GRCh37
NC_000010.9:g.50348925A>C	NCBI36
NG_009442.1:g.73229T>G , LRG_465:g.73229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3087T>G MANE Select	ENSP00000348089.5:p.Val1029=
ENST00000679552.1:n.158T>G
ENST00000679871.1:n.233T>G
ENST00000679974.1:n.136T>G
ENST00000681632.1:n.4490T>G
ENST00000681659.1:c.2928T>G	ENSP00000505631.1:p.Val976=
ENST00000355832.9:c.3087T>G	ENSP00000348089.5:p.Val1029=
ENST00000623073.3:c.*1383T>G	ENSP00000485650.1:n.*1383T>G
ENST00000623115.3:c.1197T>G	ENSP00000485321.1:p.Val399=
ENST00000624341.3:c.919T>G
NM_000124.3:c.3087T>G	NP_000115.1:p.Val1029=
XR_945953.1:n.243-692A>C
NM_001346440.1:c.3087T>G	NP_001333369.1:p.Val1029=
NM_000124.4:c.3087T>G MANE Select	NP_000115.1:p.Val1029=
NM_001346440.2:c.3087T>G	NP_001333369.1:p.Val1029=