Canonical Allele Identifier: CA5495229

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300041
• ClinVar RCV Id: RCV000291244 ; RCV000330020 ; RCV000383350 ; RCV000514743 ; RCV001731575 ; RCV002487334
• dbSNP Id: rs2229761
• ExAC: 10:50669459 C / G
• gnomAD v2: 10-50669459-C-G
• gnomAD v3: 10-49461413-C-G
• gnomAD v4: 10-49461413-C-G
• MyVariant Identifiers: chr10:g.50669459C>G (hg19) ; chr10:g.49461413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461413C>G , CM000672.2:g.49461413C>G	GRCh38
NC_000010.10:g.50669459C>G , CM000672.1:g.50669459C>G	GRCh37
NC_000010.9:g.50339465C>G	NCBI36
NG_009442.1:g.82689G>C , LRG_465:g.82689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3922G>C MANE Select	ENSP00000348089.5:p.Val1308Leu
ENST00000679552.1:n.993G>C
ENST00000679871.1:n.1068G>C
ENST00000679974.1:n.971G>C
ENST00000681632.1:n.5325G>C
ENST00000681659.1:c.3763G>C	ENSP00000505631.1:p.Val1255Leu
ENST00000355832.9:c.3922G>C	ENSP00000348089.5:p.Val1308Leu
ENST00000465653.1:n.244G>C
ENST00000623073.3:c.*2218G>C	ENSP00000485650.1:n.*2218G>C
ENST00000623115.3:c.2032G>C	ENSP00000485321.1:p.Val678Leu
ENST00000624341.3:c.1754G>C
NM_000124.3:c.3922G>C	NP_000115.1:p.Val1308Leu
XR_945953.1:n.243-10152C>G
NM_001346440.1:c.3922G>C	NP_001333369.1:p.Val1308Leu
NM_000124.4:c.3922G>C MANE Select	NP_000115.1:p.Val1308Leu
NM_001346440.2:c.3922G>C	NP_001333369.1:p.Val1308Leu