Canonical Allele Identifier: CA206584947
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 722463
ClinVar RCV Id: RCV000896101 RCV004541853
dbSNP Id: rs988596074
gnomAD v2: 10-50678898-T-C
gnomAD v3: 10-49470852-T-C
gnomAD v4: 10-49470852-T-C
MyVariant Identifiers: chr10:g.50678898T>C (hg19) chr10:g.50678898_50678911delinsCAGATGGCATTTGG (hg19) chr10:g.49470852T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470852T>C , CM000672.2:g.49470852T>C GRCh38
NC_000010.10:g.50678898T>C , CM000672.1:g.50678898T>C GRCh37
NC_000010.9:g.50348904T>C NCBI36
NG_009442.1:g.73250A>G , LRG_465:g.73250A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3108A>G MANE Select ENSP00000348089.5:p.Leu1036=
ENST00000679552.1:n.179A>G
ENST00000679871.1:n.254A>G
ENST00000679974.1:n.157A>G
ENST00000681632.1:n.4511A>G
ENST00000681659.1:c.2949A>G ENSP00000505631.1:p.Leu983=
ENST00000355832.9:c.3108A>G ENSP00000348089.5:p.Leu1036=
ENST00000623073.3:c.*1404A>G ENSP00000485650.1:n.*1404A>G
ENST00000623115.3:c.1218A>G ENSP00000485321.1:p.Leu406=
ENST00000624341.3:c.940A>G
NM_000124.3:c.3108A>G NP_000115.1:p.Leu1036=
XR_945953.1:n.243-713T>C
NM_001346440.1:c.3108A>G NP_001333369.1:p.Leu1036=
NM_000124.4:c.3108A>G MANE Select NP_000115.1:p.Leu1036=
NM_001346440.2:c.3108A>G NP_001333369.1:p.Leu1036=
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