Canonical Allele Identifier: CA5495486

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2034667
• ClinVar RCV Id: RCV002889693
• dbSNP Id: rs766662547
• ExAC: 10:50680430 G / T
• gnomAD v2: 10-50680430-G-T
• gnomAD v4: 10-49472384-G-T
• MyVariant Identifiers: chr10:g.50680430G>T (hg19) ; chr10:g.49472384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472384G>T , CM000672.2:g.49472384G>T	GRCh38
NC_000010.10:g.50680430G>T , CM000672.1:g.50680430G>T	GRCh37
NC_000010.9:g.50350436G>T	NCBI36
NG_009442.1:g.71718C>A , LRG_465:g.71718C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2916C>A MANE Select	ENSP00000348089.5:p.Ile972=
ENST00000681632.1:n.4319C>A
ENST00000681659.1:c.2757C>A	ENSP00000505631.1:p.Ile919=
ENST00000355832.9:c.2916C>A	ENSP00000348089.5:p.Ile972=
ENST00000623073.3:c.*1212C>A	ENSP00000485650.1:n.*1212C>A
ENST00000623115.3:c.1026C>A	ENSP00000485321.1:p.Ile342=
ENST00000624341.3:c.748C>A
NM_000124.3:c.2916C>A	NP_000115.1:p.Ile972=
XR_945953.1:n.690-319G>T
NM_001346440.1:c.2916C>A	NP_001333369.1:p.Ile972=
NM_000124.4:c.2916C>A MANE Select	NP_000115.1:p.Ile972=
NM_001346440.2:c.2916C>A	NP_001333369.1:p.Ile972=