Canonical Allele Identifier: CA5496448

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2697797
• ClinVar RCV Id: RCV003551450
• dbSNP Id: rs769157895
• ExAC: 10:50732735 A / G
• gnomAD v2: 10-50732735-A-G
• gnomAD v4: 10-49524689-A-G
• MyVariant Identifiers: chr10:g.50732735A>G (hg19) ; chr10:g.49524689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524689A>G , CM000672.2:g.49524689A>G	GRCh38
NC_000010.10:g.50732735A>G , CM000672.1:g.50732735A>G	GRCh37
NC_000010.9:g.50402741A>G	NCBI36
NG_009442.1:g.19413T>C , LRG_465:g.19413T>C
NG_033155.1:g.4593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.741T>C MANE Select	ENSP00000348089.5:p.Pro247=
ENST00000447839.7:c.741T>C MANE Plus Clinical	ENSP00000387966.2:p.Pro247=
ENST00000679596.1:c.*370T>C	ENSP00000504862.1:n.*370T>C
ENST00000679811.1:n.824T>C
ENST00000680107.1:c.652+3728T>C	ENSP00000505909.1:n.652+3728T>C
ENST00000680233.1:n.834T>C
ENST00000681632.1:n.819T>C
ENST00000681659.1:c.741T>C	ENSP00000505631.1:p.Pro247=
ENST00000355832.9:c.741T>C	ENSP00000348089.5:p.Pro247=
ENST00000447839.6:c.741T>C	ENSP00000387966.2:p.Pro247=
ENST00000515869.1:c.741T>C	ENSP00000423550.1:p.Pro247=
NM_000124.3:c.741T>C	NP_000115.1:p.Pro247=
NM_001277058.1:c.741T>C	NP_001263987.1:p.Pro247=
NM_001277059.1:c.741T>C	NP_001263988.1:p.Pro247=
NM_001346440.1:c.741T>C	NP_001333369.1:p.Pro247=
NM_000124.4:c.741T>C MANE Select	NP_000115.1:p.Pro247=
NM_001277058.2:c.741T>C MANE Plus Clinical	NP_001263987.1:p.Pro247=
NM_001277059.2:c.741T>C	NP_001263988.1:p.Pro247=
NM_001346440.2:c.741T>C	NP_001333369.1:p.Pro247=