Canonical Allele Identifier: CA5495811

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300075
• ClinVar RCV Id: RCV000286446 ; RCV000341501 ; RCV000407921 ; RCV000877297
• dbSNP Id: rs373710355
• ExAC: 10:50691385 G / A
• gnomAD v2: 10-50691385-G-A
• gnomAD v3: 10-49483339-G-A
• gnomAD v4: 10-49483339-G-A
• MyVariant Identifiers: chr10:g.50691385G>A (hg19) ; chr10:g.49483339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483339G>A , CM000672.2:g.49483339G>A	GRCh38
NC_000010.10:g.50691385G>A , CM000672.1:g.50691385G>A	GRCh37
NC_000010.9:g.50361391G>A	NCBI36
NG_009442.1:g.60763C>T , LRG_465:g.60763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1992+7C>T MANE Select	ENSP00000348089.5:n.1992+7C>T
ENST00000681632.1:n.2070+7C>T
ENST00000681659.1:c.1833+7C>T	ENSP00000505631.1:n.1833+7C>T
ENST00000355832.9:c.1992+7C>T	ENSP00000348089.5:n.1992+7C>T
ENST00000623073.3:c.*384+7C>T	ENSP00000485650.1:n.*384+7C>T
ENST00000623115.3:c.102+7C>T	ENSP00000485321.1:n.102+7C>T
NM_000124.3:c.1992+7C>T	NP_000115.1:n.1992+7C>T
NM_001346440.1:c.1992+7C>T	NP_001333369.1:n.1992+7C>T
NM_000124.4:c.1992+7C>T MANE Select	NP_000115.1:n.1992+7C>T
NM_001346440.2:c.1992+7C>T	NP_001333369.1:n.1992+7C>T