Canonical Allele Identifier: CA240638

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 194590
• ClinVar RCV Id: RCV000174989 ; RCV000307545 ; RCV000397231 ; RCV000364521 ; RCV004537372
• dbSNP Id: rs145720191
• ExAC: 10:50680422 C / T
• gnomAD v2: 10-50680422-C-T
• gnomAD v3: 10-49472376-C-T
• gnomAD v4: 10-49472376-C-T
• MyVariant Identifiers: chr10:g.50680422C>T (hg19) ; chr10:g.49472376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472376C>T , CM000672.2:g.49472376C>T	GRCh38
NC_000010.10:g.50680422C>T , CM000672.1:g.50680422C>T	GRCh37
NC_000010.9:g.50350428C>T	NCBI36
NG_009442.1:g.71726G>A , LRG_465:g.71726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2924G>A MANE Select	ENSP00000348089.5:p.Arg975Gln
ENST00000681632.1:n.4327G>A
ENST00000681659.1:c.2765G>A	ENSP00000505631.1:p.Arg922Gln
ENST00000355832.9:c.2924G>A	ENSP00000348089.5:p.Arg975Gln
ENST00000623073.3:c.*1220G>A	ENSP00000485650.1:n.*1220G>A
ENST00000623115.3:c.1034G>A	ENSP00000485321.1:p.Arg345Gln
ENST00000624341.3:c.756G>A
NM_000124.3:c.2924G>A	NP_000115.1:p.Arg975Gln
XR_945953.1:n.690-327C>T
NM_001346440.1:c.2924G>A	NP_001333369.1:p.Arg975Gln
NM_000124.4:c.2924G>A MANE Select	NP_000115.1:p.Arg975Gln
NM_001346440.2:c.2924G>A	NP_001333369.1:p.Arg975Gln