Canonical Allele Identifier: CA199591
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190164
ClinVar RCV Id: RCV000170382 RCV000266566 RCV000323987 RCV000358951 RCV000515412 RCV000724216 RCV000988355 RCV002516541
dbSNP Id: rs139007661
ExAC: 10:50678884 T / G
gnomAD v2: 10-50678884-T-G
gnomAD v3: 10-49470838-T-G
gnomAD v4: 10-49470838-T-G
MyVariant Identifiers: chr10:g.50678884T>G (hg19) chr10:g.49470838T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470838T>G , CM000672.2:g.49470838T>G GRCh38
NC_000010.10:g.50678884T>G , CM000672.1:g.50678884T>G GRCh37
NC_000010.9:g.50348890T>G NCBI36
NG_009442.1:g.73264A>C , LRG_465:g.73264A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3122A>C MANE Select ENSP00000348089.5:p.Gln1041Pro
ENST00000679552.1:n.193A>C
ENST00000679871.1:n.268A>C
ENST00000679974.1:n.171A>C
ENST00000681632.1:n.4525A>C
ENST00000681659.1:c.2963A>C ENSP00000505631.1:p.Gln988Pro
ENST00000355832.9:c.3122A>C ENSP00000348089.5:p.Gln1041Pro
ENST00000623073.3:c.*1418A>C ENSP00000485650.1:n.*1418A>C
ENST00000623115.3:c.1232A>C ENSP00000485321.1:p.Gln411Pro
ENST00000624341.3:c.954A>C
NM_000124.3:c.3122A>C NP_000115.1:p.Gln1041Pro
XR_945953.1:n.243-727T>G
NM_001346440.1:c.3122A>C NP_001333369.1:p.Gln1041Pro
NM_000124.4:c.3122A>C MANE Select NP_000115.1:p.Gln1041Pro
NM_001346440.2:c.3122A>C NP_001333369.1:p.Gln1041Pro
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