Canonical Allele Identifier: CA5496425

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300092
• ClinVar RCV Id: RCV000288378 ; RCV000345666 ; RCV000408050 ; RCV000983817
• dbSNP Id: rs143260457
• ExAC: 10:50732618 C / G
• gnomAD v2: 10-50732618-C-G
• gnomAD v3: 10-49524572-C-G
• gnomAD v4: 10-49524572-C-G
• MyVariant Identifiers: chr10:g.50732618C>G (hg19) ; chr10:g.49524572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524572C>G , CM000672.2:g.49524572C>G	GRCh38
NC_000010.10:g.50732618C>G , CM000672.1:g.50732618C>G	GRCh37
NC_000010.9:g.50402624C>G	NCBI36
NG_009442.1:g.19530G>C , LRG_465:g.19530G>C
NG_033155.1:g.4710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.858G>C MANE Select	ENSP00000348089.5:p.Lys286Asn
ENST00000447839.7:c.858G>C MANE Plus Clinical	ENSP00000387966.2:p.Lys286Asn
ENST00000679596.1:c.*487G>C	ENSP00000504862.1:n.*487G>C
ENST00000679811.1:n.941G>C
ENST00000680107.1:c.652+3845G>C	ENSP00000505909.1:n.652+3845G>C
ENST00000680233.1:n.951G>C
ENST00000681632.1:n.936G>C
ENST00000681659.1:c.858G>C	ENSP00000505631.1:p.Lys286Asn
ENST00000355832.9:c.858G>C	ENSP00000348089.5:p.Lys286Asn
ENST00000447839.6:c.858G>C	ENSP00000387966.2:p.Lys286Asn
ENST00000515869.1:c.858G>C	ENSP00000423550.1:p.Lys286Asn
NM_000124.3:c.858G>C	NP_000115.1:p.Lys286Asn
NM_001277058.1:c.858G>C	NP_001263987.1:p.Lys286Asn
NM_001277059.1:c.858G>C	NP_001263988.1:p.Lys286Asn
NM_001346440.1:c.858G>C	NP_001333369.1:p.Lys286Asn
NM_000124.4:c.858G>C MANE Select	NP_000115.1:p.Lys286Asn
NM_001277058.2:c.858G>C MANE Plus Clinical	NP_001263987.1:p.Lys286Asn
NM_001277059.2:c.858G>C	NP_001263988.1:p.Lys286Asn
NM_001346440.2:c.858G>C	NP_001333369.1:p.Lys286Asn