Canonical Allele Identifier: CA206583833

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1293099
• ClinVar RCV Id: RCV001718237
• dbSNP Id: rs4240505
• gnomAD v2: 10-50678066-G-A
• gnomAD v3: 10-49470020-G-A
• gnomAD v4: 10-49470020-G-A
• MyVariant Identifiers: chr10:g.50678066G>A (hg19) ; chr10:g.49470020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470020G>A , CM000672.2:g.49470020G>A	GRCh38
NC_000010.10:g.50678066G>A , CM000672.1:g.50678066G>A	GRCh37
NC_000010.9:g.50348072G>A	NCBI36
NG_009442.1:g.74082C>T , LRG_465:g.74082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+162C>T MANE Select	ENSP00000348089.5:n.3778+162C>T
ENST00000679552.1:n.849+162C>T
ENST00000679871.1:n.924+162C>T
ENST00000679974.1:n.827+162C>T
ENST00000681632.1:n.5181+162C>T
ENST00000681659.1:c.3619+162C>T	ENSP00000505631.1:n.3619+162C>T
ENST00000355832.9:c.3778+162C>T	ENSP00000348089.5:n.3778+162C>T
ENST00000465653.1:n.100+162C>T
ENST00000623073.3:c.*2074+162C>T	ENSP00000485650.1:n.*2074+162C>T
ENST00000623115.3:c.1888+162C>T	ENSP00000485321.1:n.1888+162C>T
ENST00000624341.3:c.1610+162C>T
NM_000124.3:c.3778+162C>T	NP_000115.1:n.3778+162C>T
XR_945953.1:n.243-1545G>A
NM_001346440.1:c.3778+162C>T	NP_001333369.1:n.3778+162C>T
NM_000124.4:c.3778+162C>T MANE Select	NP_000115.1:n.3778+162C>T
NM_001346440.2:c.3778+162C>T	NP_001333369.1:n.3778+162C>T