Canonical Allele Identifier: CA274690

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 190147
• ClinVar RCV Id: RCV000170365 ; RCV000723622 ; RCV000983983 ; RCV001280930
• dbSNP Id: rs371739894
• ExAC: 10:50713929 C / A
• gnomAD v2: 10-50713929-C-A
• gnomAD v3: 10-49505883-C-A
• gnomAD v4: 10-49505883-C-A
• MyVariant Identifiers: chr10:g.50713929C>A (hg19) ; chr10:g.49505883C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49505883C>A , CM000672.2:g.49505883C>A	GRCh38
NC_000010.10:g.50713929C>A , CM000672.1:g.50713929C>A	GRCh37
NC_000010.9:g.50383935C>A	NCBI36
NG_009442.1:g.38219G>T , LRG_465:g.38219G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1526+1G>T MANE Select	ENSP00000348089.5:n.1526+1G>T
ENST00000679811.1:n.1610G>T
ENST00000681632.1:n.1604+1G>T
ENST00000681659.1:c.1526+1G>T	ENSP00000505631.1:n.1526+1G>T
ENST00000355832.9:c.1526+1G>T	ENSP00000348089.5:n.1526+1G>T
ENST00000475116.1:n.116+1G>T
ENST00000623073.3:c.-5260G>T	ENSP00000485650.1:n.-5260G>T
ENST00000623788.1:n.525+1G>T
NM_000124.3:c.1526+1G>T	NP_000115.1:n.1526+1G>T
NM_001346440.1:c.1526+1G>T	NP_001333369.1:n.1526+1G>T
NM_000124.4:c.1526+1G>T MANE Select	NP_000115.1:n.1526+1G>T
NM_001346440.2:c.1526+1G>T	NP_001333369.1:n.1526+1G>T