Canonical Allele Identifier: CA5495858

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 452965
• ClinVar RCV Id: RCV000522199 ; RCV001106688 ; RCV001106689 ; RCV001106690
• dbSNP Id: rs200832611
• ExAC: 10:50701164 T / C
• gnomAD v2: 10-50701164-T-C
• gnomAD v3: 10-49493118-T-C
• gnomAD v4: 10-49493118-T-C
• MyVariant Identifiers: chr10:g.50701164T>C (hg19) ; chr10:g.49493118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493118T>C , CM000672.2:g.49493118T>C	GRCh38
NC_000010.10:g.50701164T>C , CM000672.1:g.50701164T>C	GRCh37
NC_000010.9:g.50371170T>C	NCBI36
NG_009442.1:g.50984A>G , LRG_465:g.50984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1820A>G MANE Select	ENSP00000348089.5:p.Lys607Arg
ENST00000681632.1:n.1898A>G
ENST00000681659.1:c.1661A>G	ENSP00000505631.1:p.Lys554Arg
ENST00000355832.9:c.1820A>G	ENSP00000348089.5:p.Lys607Arg
ENST00000475116.1:n.275+7420A>G
ENST00000623073.3:c.221A>G	ENSP00000485650.1:p.Lys74Arg
ENST00000623115.3:c.-70+7420A>G	ENSP00000485321.1:n.-70+7420A>G
ENST00000623318.1:c.221A>G	ENSP00000485423.1:p.Lys74Arg
NM_000124.3:c.1820A>G	NP_000115.1:p.Lys607Arg
NM_001346440.1:c.1820A>G	NP_001333369.1:p.Lys607Arg
NM_000124.4:c.1820A>G MANE Select	NP_000115.1:p.Lys607Arg
NM_001346440.2:c.1820A>G	NP_001333369.1:p.Lys607Arg