Canonical Allele Identifier: CA5495417

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1141051
• ClinVar RCV Id: RCV001478355
• dbSNP Id: rs548687511
• ExAC: 10:50678916 C / T
• gnomAD v2: 10-50678916-C-T
• gnomAD v3: 10-49470870-C-T
• gnomAD v4: 10-49470870-C-T
• MyVariant Identifiers: chr10:g.50678916C>T (hg19) ; chr10:g.49470870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470870C>T , CM000672.2:g.49470870C>T	GRCh38
NC_000010.10:g.50678916C>T , CM000672.1:g.50678916C>T	GRCh37
NC_000010.9:g.50348922C>T	NCBI36
NG_009442.1:g.73232G>A , LRG_465:g.73232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3090G>A MANE Select	ENSP00000348089.5:p.Gln1030=
ENST00000679552.1:n.161G>A
ENST00000679871.1:n.236G>A
ENST00000679974.1:n.139G>A
ENST00000681632.1:n.4493G>A
ENST00000681659.1:c.2931G>A	ENSP00000505631.1:p.Gln977=
ENST00000355832.9:c.3090G>A	ENSP00000348089.5:p.Gln1030=
ENST00000623073.3:c.*1386G>A	ENSP00000485650.1:n.*1386G>A
ENST00000623115.3:c.1200G>A	ENSP00000485321.1:p.Gln400=
ENST00000624341.3:c.922G>A
NM_000124.3:c.3090G>A	NP_000115.1:p.Gln1030=
XR_945953.1:n.243-695C>T
NM_001346440.1:c.3090G>A	NP_001333369.1:p.Gln1030=
NM_000124.4:c.3090G>A MANE Select	NP_000115.1:p.Gln1030=
NM_001346440.2:c.3090G>A	NP_001333369.1:p.Gln1030=