Canonical Allele Identifier: CA394812296

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935599-C-G
• MyVariant Identifiers: chr16:g.14029456C>G (hg19) ; chr16:g.13935599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935599C>G , CM000678.2:g.13935599C>G	GRCh38
NC_000016.9:g.14029456C>G , CM000678.1:g.14029456C>G	GRCh37
NC_000016.8:g.13936957C>G	NCBI36
NG_011442.1:g.20443C>G , LRG_463:g.20443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1745C>G
ENST00000682617.1:c.1805C>G	ENSP00000507912.1:p.Pro602Arg
ENST00000682826.1:c.*981C>G	ENSP00000507274.1:n.*981C>G
ENST00000682909.1:n.3707C>G
ENST00000683277.1:n.3312C>G
ENST00000683407.1:n.1675C>G
ENST00000683962.1:c.*1361C>G	ENSP00000506854.1:n.*1361C>G
ENST00000311895.8:c.1667C>G MANE Select	ENSP00000310520.7:p.Pro556Arg
ENST00000311895.7:c.1667C>G	ENSP00000310520.7:p.Pro556Arg
ENST00000389138.7:n.944C>G
NM_005236.2:c.1667C>G , LRG_463t1:c.1667C>G	NP_005227.1:p.Pro556Arg
XM_011522424.1:c.1805C>G	XP_011520726.1:p.Pro602Arg
XM_011522425.1:c.1124C>G	XP_011520727.1:p.Pro375Arg
XM_011522426.1:c.878C>G	XP_011520728.1:p.Pro293Arg
XM_011522427.1:c.317C>G	XP_011520729.1:p.Pro106Arg
XR_932805.1:n.1826C>G
XM_011522424.3:c.1805C>G	XP_011520726.1:p.Pro602Arg
XM_017023043.2:c.878C>G	XP_016878532.1:p.Pro293Arg
NM_005236.3:c.1667C>G MANE Select	NP_005227.1:p.Pro556Arg