Canonical Allele Identifier: CA5495341
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300046
ClinVar RCV Id: RCV000282486 RCV000339799 RCV000378213 RCV000889649
dbSNP Id: rs148636026
ExAC: 10:50678524 C / G
gnomAD v2: 10-50678524-C-G
gnomAD v3: 10-49470478-C-G
gnomAD v4: 10-49470478-C-G
COSMIC: COSM4600928
MyVariant Identifiers: chr10:g.50678524C>G (hg19) chr10:g.49470478C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470478C>G , CM000672.2:g.49470478C>G GRCh38
NC_000010.10:g.50678524C>G , CM000672.1:g.50678524C>G GRCh37
NC_000010.9:g.50348530C>G NCBI36
NG_009442.1:g.73624G>C , LRG_465:g.73624G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3482G>C MANE Select ENSP00000348089.5:p.Ser1161Thr
ENST00000679552.1:n.553G>C
ENST00000679871.1:n.628G>C
ENST00000679974.1:n.531G>C
ENST00000681632.1:n.4885G>C
ENST00000681659.1:c.3323G>C ENSP00000505631.1:p.Ser1108Thr
ENST00000355832.9:c.3482G>C ENSP00000348089.5:p.Ser1161Thr
ENST00000623073.3:c.*1778G>C ENSP00000485650.1:n.*1778G>C
ENST00000623115.3:c.1592G>C ENSP00000485321.1:p.Ser531Thr
ENST00000624341.3:c.1314G>C
NM_000124.3:c.3482G>C NP_000115.1:p.Ser1161Thr
XR_945953.1:n.243-1087C>G
NM_001346440.1:c.3482G>C NP_001333369.1:p.Ser1161Thr
NM_000124.4:c.3482G>C MANE Select NP_000115.1:p.Ser1161Thr
NM_001346440.2:c.3482G>C NP_001333369.1:p.Ser1161Thr
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