Canonical Allele Identifier: CA593780453

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1540179
• ClinVar RCV Id: RCV002154954
• dbSNP Id: rs1461042995
• gnomAD v2: 10-50678943-G-A
• gnomAD v4: 10-49470897-G-A
• MyVariant Identifiers: chr10:g.50678943G>A (hg19) ; chr10:g.49470897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470897G>A , CM000672.2:g.49470897G>A	GRCh38
NC_000010.10:g.50678943G>A , CM000672.1:g.50678943G>A	GRCh37
NC_000010.9:g.50348949G>A	NCBI36
NG_009442.1:g.73205C>T , LRG_465:g.73205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3071-8C>T MANE Select	ENSP00000348089.5:n.3071-8C>T
ENST00000679552.1:n.142-8C>T
ENST00000679871.1:n.217-8C>T
ENST00000679974.1:n.120-8C>T
ENST00000681632.1:n.4474-8C>T
ENST00000681659.1:c.2912-8C>T	ENSP00000505631.1:n.2912-8C>T
ENST00000355832.9:c.3071-8C>T	ENSP00000348089.5:n.3071-8C>T
ENST00000623073.3:c.*1367-8C>T	ENSP00000485650.1:n.*1367-8C>T
ENST00000623115.3:c.1181-8C>T	ENSP00000485321.1:n.1181-8C>T
ENST00000624341.3:c.903-8C>T
NM_000124.3:c.3071-8C>T	NP_000115.1:n.3071-8C>T
XR_945953.1:n.243-668G>A
NM_001346440.1:c.3071-8C>T	NP_001333369.1:n.3071-8C>T
NM_000124.4:c.3071-8C>T MANE Select	NP_000115.1:n.3071-8C>T
NM_001346440.2:c.3071-8C>T	NP_001333369.1:n.3071-8C>T