Canonical Allele Identifier: CA376708013

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1073494
• ClinVar RCV Id: RCV001386522
• dbSNP Id: rs1223670390
• gnomAD v4: 10-49460375-G-A
• MyVariant Identifiers: chr10:g.50668421G>A (hg19) ; chr10:g.49460375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460375G>A , CM000672.2:g.49460375G>A	GRCh38
NC_000010.10:g.50668421G>A , CM000672.1:g.50668421G>A	GRCh37
NC_000010.9:g.50338427G>A	NCBI36
NG_009442.1:g.83727C>T , LRG_465:g.83727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4060C>T MANE Select	ENSP00000348089.5:p.Gln1354Ter
ENST00000679552.1:n.1131C>T
ENST00000679871.1:n.1206C>T
ENST00000679974.1:n.1109C>T
ENST00000681632.1:n.5463C>T
ENST00000681659.1:c.3901C>T	ENSP00000505631.1:p.Gln1301Ter
ENST00000355832.9:c.4060C>T	ENSP00000348089.5:p.Gln1354Ter
ENST00000465653.1:n.382C>T
ENST00000623073.3:c.*2356C>T	ENSP00000485650.1:n.*2356C>T
ENST00000623115.3:c.2170C>T	ENSP00000485321.1:p.Gln724Ter
ENST00000624341.3:c.1892C>T
NM_000124.3:c.4060C>T	NP_000115.1:p.Gln1354Ter
XR_945953.1:n.243-11190G>A
NM_001346440.1:c.4060C>T	NP_001333369.1:p.Gln1354Ter
NM_000124.4:c.4060C>T MANE Select	NP_000115.1:p.Gln1354Ter
NM_001346440.2:c.4060C>T	NP_001333369.1:p.Gln1354Ter