Canonical Allele Identifier: CA5495774
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392680
ClinVar RCV Id: RCV001882242 RCV002553633
dbSNP Id: rs199921831
ExAC: 10:50690825 A / T
gnomAD v2: 10-50690825-A-T
gnomAD v3: 10-49482779-A-T
gnomAD v4: 10-49482779-A-T
MyVariant Identifiers: chr10:g.50690825A>T (hg19) chr10:g.49482779A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482779A>T , CM000672.2:g.49482779A>T GRCh38
NC_000010.10:g.50690825A>T , CM000672.1:g.50690825A>T GRCh37
NC_000010.9:g.50360831A>T NCBI36
NG_009442.1:g.61323T>A , LRG_465:g.61323T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2077T>A MANE Select ENSP00000348089.5:p.Phe693Ile
ENST00000681632.1:n.2155T>A
ENST00000681659.1:c.1918T>A ENSP00000505631.1:p.Phe640Ile
ENST00000355832.9:c.2077T>A ENSP00000348089.5:p.Phe693Ile
ENST00000623073.3:c.*469T>A ENSP00000485650.1:n.*469T>A
ENST00000623115.3:c.187T>A ENSP00000485321.1:p.Phe63Ile
NM_000124.3:c.2077T>A NP_000115.1:p.Phe693Ile
NM_001346440.1:c.2077T>A NP_001333369.1:p.Phe693Ile
NM_000124.4:c.2077T>A MANE Select NP_000115.1:p.Phe693Ile
NM_001346440.2:c.2077T>A NP_001333369.1:p.Phe693Ile
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