Canonical Allele Identifier: CA376716379

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1723782
• ClinVar RCV Id: RCV002306343
• dbSNP Id: rs1454808450
• gnomAD v2: 10-50678796-T-G
• gnomAD v4: 10-49470750-T-G
• MyVariant Identifiers: chr10:g.50678796T>G (hg19) ; chr10:g.49470750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470750T>G , CM000672.2:g.49470750T>G	GRCh38
NC_000010.10:g.50678796T>G , CM000672.1:g.50678796T>G	GRCh37
NC_000010.9:g.50348802T>G	NCBI36
NG_009442.1:g.73352A>C , LRG_465:g.73352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3210A>C MANE Select	ENSP00000348089.5:p.Glu1070Asp
ENST00000679552.1:n.281A>C
ENST00000679871.1:n.356A>C
ENST00000679974.1:n.259A>C
ENST00000681632.1:n.4613A>C
ENST00000681659.1:c.3051A>C	ENSP00000505631.1:p.Glu1017Asp
ENST00000355832.9:c.3210A>C	ENSP00000348089.5:p.Glu1070Asp
ENST00000623073.3:c.*1506A>C	ENSP00000485650.1:n.*1506A>C
ENST00000623115.3:c.1320A>C	ENSP00000485321.1:p.Glu440Asp
ENST00000624341.3:c.1042A>C
NM_000124.3:c.3210A>C	NP_000115.1:p.Glu1070Asp
XR_945953.1:n.243-815T>G
NM_001346440.1:c.3210A>C	NP_001333369.1:p.Glu1070Asp
NM_000124.4:c.3210A>C MANE Select	NP_000115.1:p.Glu1070Asp
NM_001346440.2:c.3210A>C	NP_001333369.1:p.Glu1070Asp