Canonical Allele Identifier: CA469604029

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1990320
• ClinVar RCV Id: RCV002771277
• dbSNP Id: rs35182583
• gnomAD v2: 10-50690820-C-A
• gnomAD v3: 10-49482774-C-A
• gnomAD v4: 10-49482774-C-A
• MyVariant Identifiers: chr10:g.50690820C>A (hg19) ; chr10:g.49482774C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482774C>A , CM000672.2:g.49482774C>A	GRCh38
NC_000010.10:g.50690820C>A , CM000672.1:g.50690820C>A	GRCh37
NC_000010.9:g.50360826C>A	NCBI36
NG_009442.1:g.61328G>T , LRG_465:g.61328G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2082G>T MANE Select	ENSP00000348089.5:p.Pro694=
ENST00000681632.1:n.2160G>T
ENST00000681659.1:c.1923G>T	ENSP00000505631.1:p.Pro641=
ENST00000355832.9:c.2082G>T	ENSP00000348089.5:p.Pro694=
ENST00000623073.3:c.*474G>T	ENSP00000485650.1:n.*474G>T
ENST00000623115.3:c.192G>T	ENSP00000485321.1:p.Pro64=
NM_000124.3:c.2082G>T	NP_000115.1:p.Pro694=
NM_001346440.1:c.2082G>T	NP_001333369.1:p.Pro694=
NM_000124.4:c.2082G>T MANE Select	NP_000115.1:p.Pro694=
NM_001346440.2:c.2082G>T	NP_001333369.1:p.Pro694=