Canonical Allele Identifier: CA469790597

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1602436
• ClinVar RCV Id: RCV002137180
• dbSNP Id: rs1590475348
• gnomAD v3: 10-49524611-C-T
• gnomAD v4: 10-49524611-C-T
• MyVariant Identifiers: chr10:g.50732657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524611C>T , CM000672.2:g.49524611C>T	GRCh38
NC_000010.10:g.50732657C>T , CM000672.1:g.50732657C>T	GRCh37
NC_000010.9:g.50402663C>T	NCBI36
NG_009442.1:g.19491G>A , LRG_465:g.19491G>A
NG_033155.1:g.4671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.819G>A MANE Select	ENSP00000348089.5:p.Lys273=
ENST00000447839.7:c.819G>A MANE Plus Clinical	ENSP00000387966.2:p.Lys273=
ENST00000679596.1:c.*448G>A	ENSP00000504862.1:n.*448G>A
ENST00000679811.1:n.902G>A
ENST00000680107.1:c.652+3806G>A	ENSP00000505909.1:n.652+3806G>A
ENST00000680233.1:n.912G>A
ENST00000681632.1:n.897G>A
ENST00000681659.1:c.819G>A	ENSP00000505631.1:p.Lys273=
ENST00000355832.9:c.819G>A	ENSP00000348089.5:p.Lys273=
ENST00000447839.6:c.819G>A	ENSP00000387966.2:p.Lys273=
ENST00000515869.1:c.819G>A	ENSP00000423550.1:p.Lys273=
NM_000124.3:c.819G>A	NP_000115.1:p.Lys273=
NM_001277058.1:c.819G>A	NP_001263987.1:p.Lys273=
NM_001277059.1:c.819G>A	NP_001263988.1:p.Lys273=
NM_001346440.1:c.819G>A	NP_001333369.1:p.Lys273=
NM_000124.4:c.819G>A MANE Select	NP_000115.1:p.Lys273=
NM_001277058.2:c.819G>A MANE Plus Clinical	NP_001263987.1:p.Lys273=
NM_001277059.2:c.819G>A	NP_001263988.1:p.Lys273=
NM_001346440.2:c.819G>A	NP_001333369.1:p.Lys273=