Canonical Allele Identifier: CA1908749627

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1940239
• ClinVar RCV Id: RCV002658296
• dbSNP Id: rs1850767174

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470906C>T , CM000672.2:g.49470906C>T	GRCh38
NC_000010.10:g.50678952C>T , CM000672.1:g.50678952C>T	GRCh37
NC_000010.9:g.50348958C>T	NCBI36
NG_009442.1:g.73196G>A , LRG_465:g.73196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3071-17G>A MANE Select	ENSP00000348089.5:n.3071-17G>A
ENST00000679552.1:n.142-17G>A
ENST00000679871.1:n.217-17G>A
ENST00000679974.1:n.120-17G>A
ENST00000681632.1:n.4474-17G>A
ENST00000681659.1:c.2912-17G>A	ENSP00000505631.1:n.2912-17G>A
ENST00000355832.9:c.3071-17G>A	ENSP00000348089.5:n.3071-17G>A
ENST00000623073.3:c.*1367-17G>A	ENSP00000485650.1:n.*1367-17G>A
ENST00000623115.3:c.1181-17G>A	ENSP00000485321.1:n.1181-17G>A
ENST00000624341.3:c.903-17G>A
NM_000124.3:c.3071-17G>A	NP_000115.1:n.3071-17G>A
XR_945953.1:n.243-659C>T
NM_001346440.1:c.3071-17G>A	NP_001333369.1:n.3071-17G>A
NM_000124.4:c.3071-17G>A MANE Select	NP_000115.1:n.3071-17G>A
NM_001346440.2:c.3071-17G>A	NP_001333369.1:n.3071-17G>A