Canonical Allele Identifier: CA5495221

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1913885
• ClinVar RCV Id: RCV002590037
• dbSNP Id: rs771290763
• ExAC: 10:50669397 C / G
• gnomAD v2: 10-50669397-C-G
• gnomAD v4: 10-49461351-C-G
• MyVariant Identifiers: chr10:g.50669397C>G (hg19) ; chr10:g.49461351C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461351C>G , CM000672.2:g.49461351C>G	GRCh38
NC_000010.10:g.50669397C>G , CM000672.1:g.50669397C>G	GRCh37
NC_000010.9:g.50339403C>G	NCBI36
NG_009442.1:g.82751G>C , LRG_465:g.82751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+1G>C MANE Select	ENSP00000348089.5:n.3983+1G>C
ENST00000679552.1:n.1054+1G>C
ENST00000679871.1:n.1129+1G>C
ENST00000679974.1:n.1032+1G>C
ENST00000681632.1:n.5386+1G>C
ENST00000681659.1:c.3824+1G>C	ENSP00000505631.1:n.3824+1G>C
ENST00000355832.9:c.3983+1G>C	ENSP00000348089.5:n.3983+1G>C
ENST00000465653.1:n.305+1G>C
ENST00000623073.3:c.*2279+1G>C	ENSP00000485650.1:n.*2279+1G>C
ENST00000623115.3:c.2093+1G>C	ENSP00000485321.1:n.2093+1G>C
ENST00000624341.3:c.1815+1G>C
NM_000124.3:c.3983+1G>C	NP_000115.1:n.3983+1G>C
XR_945953.1:n.243-10214C>G
NM_001346440.1:c.3983+1G>C	NP_001333369.1:n.3983+1G>C
NM_000124.4:c.3983+1G>C MANE Select	NP_000115.1:n.3983+1G>C
NM_001346440.2:c.3983+1G>C	NP_001333369.1:n.3983+1G>C