Canonical Allele Identifier: CA240638
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 194590
ClinVar RCV Id: RCV000174989 RCV000307545 RCV000364521 RCV000397231 RCV003937569
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)
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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
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