Canonical Allele Identifier: CA376708006

Gene: ERCC6

Linked Data

• COSMIC: COSM3807278
• MyVariant Identifiers: chr10:g.50668419C>A (hg19) ; chr10:g.49460373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460373C>A , CM000672.2:g.49460373C>A	GRCh38
NC_000010.10:g.50668419C>A , CM000672.1:g.50668419C>A	GRCh37
NC_000010.9:g.50338425C>A	NCBI36
NG_009442.1:g.83729G>T , LRG_465:g.83729G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062G>T MANE Select	ENSP00000348089.5:p.Gln1354His
ENST00000679552.1:n.1133G>T
ENST00000679871.1:n.1208G>T
ENST00000679974.1:n.1111G>T
ENST00000681632.1:n.5465G>T
ENST00000681659.1:c.3903G>T	ENSP00000505631.1:p.Gln1301His
ENST00000355832.9:c.4062G>T	ENSP00000348089.5:p.Gln1354His
ENST00000465653.1:n.384G>T
ENST00000623073.3:c.*2358G>T	ENSP00000485650.1:n.*2358G>T
ENST00000623115.3:c.2172G>T	ENSP00000485321.1:p.Gln724His
ENST00000624341.3:c.1894G>T
NM_000124.3:c.4062G>T	NP_000115.1:p.Gln1354His
XR_945953.1:n.243-11192C>A
NM_001346440.1:c.4062G>T	NP_001333369.1:p.Gln1354His
NM_000124.4:c.4062G>T MANE Select	NP_000115.1:p.Gln1354His
NM_001346440.2:c.4062G>T	NP_001333369.1:p.Gln1354His