Canonical Allele Identifier: CA206586286

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1963486
• ClinVar RCV Id: RCV002715926
• dbSNP Id: rs936714001
• gnomAD v2: 10-50680523-C-G
• gnomAD v4: 10-49472477-C-G
• MyVariant Identifiers: chr10:g.50680523C>G (hg19) ; chr10:g.50680523_50680527delinsGAGAG (hg19) ; chr10:g.49472477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472477C>G , CM000672.2:g.49472477C>G	GRCh38
NC_000010.10:g.50680523C>G , CM000672.1:g.50680523C>G	GRCh37
NC_000010.9:g.50350529C>G	NCBI36
NG_009442.1:g.71625G>C , LRG_465:g.71625G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-7G>C MANE Select	ENSP00000348089.5:n.2830-7G>C
ENST00000681632.1:n.4226G>C
ENST00000681659.1:c.2671-7G>C	ENSP00000505631.1:n.2671-7G>C
ENST00000355832.9:c.2830-7G>C	ENSP00000348089.5:n.2830-7G>C
ENST00000623073.3:c.*1126-7G>C	ENSP00000485650.1:n.*1126-7G>C
ENST00000623115.3:c.940-7G>C	ENSP00000485321.1:n.940-7G>C
ENST00000624341.3:c.662-7G>C
NM_000124.3:c.2830-7G>C	NP_000115.1:n.2830-7G>C
XR_945953.1:n.690-226C>G
NM_001346440.1:c.2830-7G>C	NP_001333369.1:n.2830-7G>C
NM_000124.4:c.2830-7G>C MANE Select	NP_000115.1:n.2830-7G>C
NM_001346440.2:c.2830-7G>C	NP_001333369.1:n.2830-7G>C