Canonical Allele Identifier: CA5495616

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300063
• ClinVar RCV Id: RCV000271217 ; RCV000329615 ; RCV000384197 ; RCV001460607
• dbSNP Id: rs769421755
• ExAC: 10:50682066 C / T
• gnomAD v2: 10-50682066-C-T
• gnomAD v3: 10-49474020-C-T
• gnomAD v4: 10-49474020-C-T
• MyVariant Identifiers: chr10:g.50682066C>T (hg19) ; chr10:g.49474020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474020C>T , CM000672.2:g.49474020C>T	GRCh38
NC_000010.10:g.50682066C>T , CM000672.1:g.50682066C>T	GRCh37
NC_000010.9:g.50352072C>T	NCBI36
NG_009442.1:g.70082G>A , LRG_465:g.70082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2598+7G>A MANE Select	ENSP00000348089.5:n.2598+7G>A
ENST00000681632.1:n.2683G>A
ENST00000681659.1:c.2439+7G>A	ENSP00000505631.1:n.2439+7G>A
ENST00000355832.9:c.2598+7G>A	ENSP00000348089.5:n.2598+7G>A
ENST00000623073.3:c.*894+7G>A	ENSP00000485650.1:n.*894+7G>A
ENST00000623115.3:c.708+7G>A	ENSP00000485321.1:n.708+7G>A
ENST00000624341.3:c.430+7G>A
NM_000124.3:c.2598+7G>A	NP_000115.1:n.2598+7G>A
NM_001346440.1:c.2598+7G>A	NP_001333369.1:n.2598+7G>A
NM_000124.4:c.2598+7G>A MANE Select	NP_000115.1:n.2598+7G>A
NM_001346440.2:c.2598+7G>A	NP_001333369.1:n.2598+7G>A