Canonical Allele Identifier: CA469600307

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1134303
• ClinVar RCV Id: RCV001469144
• dbSNP Id: rs1850579886
• gnomAD v4: 10-49461411-C-T
• MyVariant Identifiers: chr10:g.50669457C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461411C>T , CM000672.2:g.49461411C>T	GRCh38
NC_000010.10:g.50669457C>T , CM000672.1:g.50669457C>T	GRCh37
NC_000010.9:g.50339463C>T	NCBI36
NG_009442.1:g.82691G>A , LRG_465:g.82691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3924G>A MANE Select	ENSP00000348089.5:p.Val1308=
ENST00000679552.1:n.995G>A
ENST00000679871.1:n.1070G>A
ENST00000679974.1:n.973G>A
ENST00000681632.1:n.5327G>A
ENST00000681659.1:c.3765G>A	ENSP00000505631.1:p.Val1255=
ENST00000355832.9:c.3924G>A	ENSP00000348089.5:p.Val1308=
ENST00000465653.1:n.246G>A
ENST00000623073.3:c.*2220G>A	ENSP00000485650.1:n.*2220G>A
ENST00000623115.3:c.2034G>A	ENSP00000485321.1:p.Val678=
ENST00000624341.3:c.1756G>A
NM_000124.3:c.3924G>A	NP_000115.1:p.Val1308=
XR_945953.1:n.243-10154C>T
NM_001346440.1:c.3924G>A	NP_001333369.1:p.Val1308=
NM_000124.4:c.3924G>A MANE Select	NP_000115.1:p.Val1308=
NM_001346440.2:c.3924G>A	NP_001333369.1:p.Val1308=