Canonical Allele Identifier: CA5495295

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 796469
• ClinVar RCV Id: RCV000979858
• dbSNP Id: rs762588948
• ExAC: 10:50678307 C / T
• gnomAD v2: 10-50678307-C-T
• gnomAD v3: 10-49470261-C-T
• gnomAD v4: 10-49470261-C-T
• MyVariant Identifiers: chr10:g.50678307C>T (hg19) ; chr10:g.49470261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470261C>T , CM000672.2:g.49470261C>T	GRCh38
NC_000010.10:g.50678307C>T , CM000672.1:g.50678307C>T	GRCh37
NC_000010.9:g.50348313C>T	NCBI36
NG_009442.1:g.73841G>A , LRG_465:g.73841G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3699G>A MANE Select	ENSP00000348089.5:p.Lys1233=
ENST00000679552.1:n.770G>A
ENST00000679871.1:n.845G>A
ENST00000679974.1:n.748G>A
ENST00000681632.1:n.5102G>A
ENST00000681659.1:c.3540G>A	ENSP00000505631.1:p.Lys1180=
ENST00000355832.9:c.3699G>A	ENSP00000348089.5:p.Lys1233=
ENST00000465653.1:n.21G>A
ENST00000623073.3:c.*1995G>A	ENSP00000485650.1:n.*1995G>A
ENST00000623115.3:c.1809G>A	ENSP00000485321.1:p.Lys603=
ENST00000624341.3:c.1531G>A
NM_000124.3:c.3699G>A	NP_000115.1:p.Lys1233=
XR_945953.1:n.243-1304C>T
NM_001346440.1:c.3699G>A	NP_001333369.1:p.Lys1233=
NM_000124.4:c.3699G>A MANE Select	NP_000115.1:p.Lys1233=
NM_001346440.2:c.3699G>A	NP_001333369.1:p.Lys1233=