Canonical Allele Identifier: CA199597

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1707
• ClinVar RCV Id: RCV000001776 ; RCV000170384 ; RCV000224059 ; RCV000345279 ; RCV000291488 ; RCV000988354
• dbSNP Id: rs4253208
• ExAC: 10:50678722 G / C
• gnomAD v2: 10-50678722-G-C
• gnomAD v3: 10-49470676-G-C
• gnomAD v4: 10-49470676-G-C
• MyVariant Identifiers: chr10:g.50678722G>C (hg19) ; chr10:g.49470676G>C (hg38)
• PubMed: PMID:9443879

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470676G>C , CM000672.2:g.49470676G>C	GRCh38
NC_000010.10:g.50678722G>C , CM000672.1:g.50678722G>C	GRCh37
NC_000010.9:g.50348728G>C	NCBI36
NG_009442.1:g.73426C>G , LRG_465:g.73426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3284C>G MANE Select	ENSP00000348089.5:p.Pro1095Arg
ENST00000679552.1:n.355C>G
ENST00000679871.1:n.430C>G
ENST00000679974.1:n.333C>G
ENST00000681632.1:n.4687C>G
ENST00000681659.1:c.3125C>G	ENSP00000505631.1:p.Pro1042Arg
ENST00000355832.9:c.3284C>G	ENSP00000348089.5:p.Pro1095Arg
ENST00000623073.3:c.*1580C>G	ENSP00000485650.1:n.*1580C>G
ENST00000623115.3:c.1394C>G	ENSP00000485321.1:p.Pro465Arg
ENST00000624341.3:c.1116C>G
NM_000124.3:c.3284C>G	NP_000115.1:p.Pro1095Arg
XR_945953.1:n.243-889G>C
NM_001346440.1:c.3284C>G	NP_001333369.1:p.Pro1095Arg
NM_000124.4:c.3284C>G MANE Select	NP_000115.1:p.Pro1095Arg
NM_001346440.2:c.3284C>G	NP_001333369.1:p.Pro1095Arg