Canonical Allele Identifier: CA5495240

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1448120
• ClinVar RCV Id: RCV002002161
• dbSNP Id: rs200516416
• ExAC: 10:50669486 G / A
• gnomAD v2: 10-50669486-G-A
• gnomAD v3: 10-49461440-G-A
• gnomAD v4: 10-49461440-G-A
• MyVariant Identifiers: chr10:g.50669486G>A (hg19) ; chr10:g.49461440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461440G>A , CM000672.2:g.49461440G>A	GRCh38
NC_000010.10:g.50669486G>A , CM000672.1:g.50669486G>A	GRCh37
NC_000010.9:g.50339492G>A	NCBI36
NG_009442.1:g.82662C>T , LRG_465:g.82662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3895C>T MANE Select	ENSP00000348089.5:p.Leu1299Phe
ENST00000679552.1:n.966C>T
ENST00000679871.1:n.1041C>T
ENST00000679974.1:n.944C>T
ENST00000681632.1:n.5298C>T
ENST00000681659.1:c.3736C>T	ENSP00000505631.1:p.Leu1246Phe
ENST00000355832.9:c.3895C>T	ENSP00000348089.5:p.Leu1299Phe
ENST00000465653.1:n.217C>T
ENST00000623073.3:c.*2191C>T	ENSP00000485650.1:n.*2191C>T
ENST00000623115.3:c.2005C>T	ENSP00000485321.1:p.Leu669Phe
ENST00000624341.3:c.1727C>T
NM_000124.3:c.3895C>T	NP_000115.1:p.Leu1299Phe
XR_945953.1:n.243-10125G>A
NM_001346440.1:c.3895C>T	NP_001333369.1:p.Leu1299Phe
NM_000124.4:c.3895C>T MANE Select	NP_000115.1:p.Leu1299Phe
NM_001346440.2:c.3895C>T	NP_001333369.1:p.Leu1299Phe