Canonical Allele Identifier: CA376708346

Gene: ERCC6

Linked Data

• dbSNP Id: rs1403192066
• gnomAD v2: 10-50669475-C-G
• gnomAD v3: 10-49461429-C-G
• gnomAD v4: 10-49461429-C-G
• MyVariant Identifiers: chr10:g.50669475C>G (hg19) ; chr10:g.49461429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461429C>G , CM000672.2:g.49461429C>G	GRCh38
NC_000010.10:g.50669475C>G , CM000672.1:g.50669475C>G	GRCh37
NC_000010.9:g.50339481C>G	NCBI36
NG_009442.1:g.82673G>C , LRG_465:g.82673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3906G>C MANE Select	ENSP00000348089.5:p.Gln1302His
ENST00000679552.1:n.977G>C
ENST00000679871.1:n.1052G>C
ENST00000679974.1:n.955G>C
ENST00000681632.1:n.5309G>C
ENST00000681659.1:c.3747G>C	ENSP00000505631.1:p.Gln1249His
ENST00000355832.9:c.3906G>C	ENSP00000348089.5:p.Gln1302His
ENST00000465653.1:n.228G>C
ENST00000623073.3:c.*2202G>C	ENSP00000485650.1:n.*2202G>C
ENST00000623115.3:c.2016G>C	ENSP00000485321.1:p.Gln672His
ENST00000624341.3:c.1738G>C
NM_000124.3:c.3906G>C	NP_000115.1:p.Gln1302His
XR_945953.1:n.243-10136C>G
NM_001346440.1:c.3906G>C	NP_001333369.1:p.Gln1302His
NM_000124.4:c.3906G>C MANE Select	NP_000115.1:p.Gln1302His
NM_001346440.2:c.3906G>C	NP_001333369.1:p.Gln1302His