Canonical Allele Identifier: CA469788684

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2987119
• ClinVar RCV Id: RCV003848758
• dbSNP Id: rs1850752893
• gnomAD v4: 10-49470369-C-T
• MyVariant Identifiers: chr10:g.50678415C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470369C>T , CM000672.2:g.49470369C>T	GRCh38
NC_000010.10:g.50678415C>T , CM000672.1:g.50678415C>T	GRCh37
NC_000010.9:g.50348421C>T	NCBI36
NG_009442.1:g.73733G>A , LRG_465:g.73733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3591G>A MANE Select	ENSP00000348089.5:p.Glu1197=
ENST00000679552.1:n.662G>A
ENST00000679871.1:n.737G>A
ENST00000679974.1:n.640G>A
ENST00000681632.1:n.4994G>A
ENST00000681659.1:c.3432G>A	ENSP00000505631.1:p.Glu1144=
ENST00000355832.9:c.3591G>A	ENSP00000348089.5:p.Glu1197=
ENST00000623073.3:c.*1887G>A	ENSP00000485650.1:n.*1887G>A
ENST00000623115.3:c.1701G>A	ENSP00000485321.1:p.Glu567=
ENST00000624341.3:c.1423G>A
NM_000124.3:c.3591G>A	NP_000115.1:p.Glu1197=
XR_945953.1:n.243-1196C>T
NM_001346440.1:c.3591G>A	NP_001333369.1:p.Glu1197=
NM_000124.4:c.3591G>A MANE Select	NP_000115.1:p.Glu1197=
NM_001346440.2:c.3591G>A	NP_001333369.1:p.Glu1197=