Canonical Allele Identifier: CA206584910

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2159584
• ClinVar RCV Id: RCV003072893
• dbSNP Id: rs935035148
• gnomAD v2: 10-50678838-G-T
• gnomAD v3: 10-49470792-G-T
• gnomAD v4: 10-49470792-G-T
• MyVariant Identifiers: chr10:g.50678838G>T (hg19) ; chr10:g.49470792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470792G>T , CM000672.2:g.49470792G>T	GRCh38
NC_000010.10:g.50678838G>T , CM000672.1:g.50678838G>T	GRCh37
NC_000010.9:g.50348844G>T	NCBI36
NG_009442.1:g.73310C>A , LRG_465:g.73310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3168C>A MANE Select	ENSP00000348089.5:p.Phe1056Leu
ENST00000679552.1:n.239C>A
ENST00000679871.1:n.314C>A
ENST00000679974.1:n.217C>A
ENST00000681632.1:n.4571C>A
ENST00000681659.1:c.3009C>A	ENSP00000505631.1:p.Phe1003Leu
ENST00000355832.9:c.3168C>A	ENSP00000348089.5:p.Phe1056Leu
ENST00000623073.3:c.*1464C>A	ENSP00000485650.1:n.*1464C>A
ENST00000623115.3:c.1278C>A	ENSP00000485321.1:p.Phe426Leu
ENST00000624341.3:c.1000C>A
NM_000124.3:c.3168C>A	NP_000115.1:p.Phe1056Leu
XR_945953.1:n.243-773G>T
NM_001346440.1:c.3168C>A	NP_001333369.1:p.Phe1056Leu
NM_000124.4:c.3168C>A MANE Select	NP_000115.1:p.Phe1056Leu
NM_001346440.2:c.3168C>A	NP_001333369.1:p.Phe1056Leu