Canonical Allele Identifier: CA469789135

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1150994
• ClinVar RCV Id: RCV001491750
• dbSNP Id: rs1329864462
• gnomAD v2: 10-50678835-A-C
• gnomAD v3: 10-49470789-A-C
• gnomAD v4: 10-49470789-A-C
• MyVariant Identifiers: chr10:g.50678835A>C (hg19) ; chr10:g.49470789A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470789A>C , CM000672.2:g.49470789A>C	GRCh38
NC_000010.10:g.50678835A>C , CM000672.1:g.50678835A>C	GRCh37
NC_000010.9:g.50348841A>C	NCBI36
NG_009442.1:g.73313T>G , LRG_465:g.73313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3171T>G MANE Select	ENSP00000348089.5:p.Pro1057=
ENST00000679552.1:n.242T>G
ENST00000679871.1:n.317T>G
ENST00000679974.1:n.220T>G
ENST00000681632.1:n.4574T>G
ENST00000681659.1:c.3012T>G	ENSP00000505631.1:p.Pro1004=
ENST00000355832.9:c.3171T>G	ENSP00000348089.5:p.Pro1057=
ENST00000623073.3:c.*1467T>G	ENSP00000485650.1:n.*1467T>G
ENST00000623115.3:c.1281T>G	ENSP00000485321.1:p.Pro427=
ENST00000624341.3:c.1003T>G
NM_000124.3:c.3171T>G	NP_000115.1:p.Pro1057=
XR_945953.1:n.243-776A>C
NM_001346440.1:c.3171T>G	NP_001333369.1:p.Pro1057=
NM_000124.4:c.3171T>G MANE Select	NP_000115.1:p.Pro1057=
NM_001346440.2:c.3171T>G	NP_001333369.1:p.Pro1057=