Canonical Allele Identifier: CA206604145

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1187027
• ClinVar RCV Id: RCV001546339
• dbSNP Id: rs4253134
• gnomAD v2: 10-50700966-G-T
• gnomAD v3: 10-49492920-G-T
• gnomAD v4: 10-49492920-G-T
• MyVariant Identifiers: chr10:g.50700966G>T (hg19) ; chr10:g.49492920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492920G>T , CM000672.2:g.49492920G>T	GRCh38
NC_000010.10:g.50700966G>T , CM000672.1:g.50700966G>T	GRCh37
NC_000010.9:g.50370972G>T	NCBI36
NG_009442.1:g.51182C>A , LRG_465:g.51182C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+197C>A MANE Select	ENSP00000348089.5:n.1821+197C>A
ENST00000681632.1:n.1899+197C>A
ENST00000681659.1:c.1662+197C>A	ENSP00000505631.1:n.1662+197C>A
ENST00000355832.9:c.1821+197C>A	ENSP00000348089.5:n.1821+197C>A
ENST00000475116.1:n.275+7618C>A
ENST00000623073.3:c.222+197C>A	ENSP00000485650.1:n.222+197C>A
ENST00000623115.3:c.-70+7618C>A	ENSP00000485321.1:n.-70+7618C>A
ENST00000623318.1:c.222+197C>A	ENSP00000485423.1:n.222+197C>A
NM_000124.3:c.1821+197C>A	NP_000115.1:n.1821+197C>A
NM_001346440.1:c.1821+197C>A	NP_001333369.1:n.1821+197C>A
NM_000124.4:c.1821+197C>A MANE Select	NP_000115.1:n.1821+197C>A
NM_001346440.2:c.1821+197C>A	NP_001333369.1:n.1821+197C>A