Canonical Allele Identifier: CA376714790

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2008850
• ClinVar RCV Id: RCV002816698
• dbSNP Id: rs1850757369
• gnomAD v3: 10-49470518-C-T
• gnomAD v4: 10-49470518-C-T
• MyVariant Identifiers: chr10:g.50678564C>T (hg19) ; chr10:g.49470518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470518C>T , CM000672.2:g.49470518C>T	GRCh38
NC_000010.10:g.50678564C>T , CM000672.1:g.50678564C>T	GRCh37
NC_000010.9:g.50348570C>T	NCBI36
NG_009442.1:g.73584G>A , LRG_465:g.73584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3442G>A MANE Select	ENSP00000348089.5:p.Asp1148Asn
ENST00000679552.1:n.513G>A
ENST00000679871.1:n.588G>A
ENST00000679974.1:n.491G>A
ENST00000681632.1:n.4845G>A
ENST00000681659.1:c.3283G>A	ENSP00000505631.1:p.Asp1095Asn
ENST00000355832.9:c.3442G>A	ENSP00000348089.5:p.Asp1148Asn
ENST00000623073.3:c.*1738G>A	ENSP00000485650.1:n.*1738G>A
ENST00000623115.3:c.1552G>A	ENSP00000485321.1:p.Asp518Asn
ENST00000624341.3:c.1274G>A
NM_000124.3:c.3442G>A	NP_000115.1:p.Asp1148Asn
XR_945953.1:n.243-1047C>T
NM_001346440.1:c.3442G>A	NP_001333369.1:p.Asp1148Asn
NM_000124.4:c.3442G>A MANE Select	NP_000115.1:p.Asp1148Asn
NM_001346440.2:c.3442G>A	NP_001333369.1:p.Asp1148Asn