Canonical Allele Identifier: CA394824391

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948133-C-G
• MyVariant Identifiers: chr16:g.14041990C>G (hg19) ; chr16:g.13948133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948133C>G , CM000678.2:g.13948133C>G	GRCh38
NC_000016.9:g.14041990C>G , CM000678.1:g.14041990C>G	GRCh37
NC_000016.8:g.13949491C>G	NCBI36
NG_011442.1:g.32977C>G , LRG_463:g.32977C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2675C>G	ENSP00000507912.1:p.Pro892Arg
ENST00000683962.1:c.*2231C>G	ENSP00000506854.1:n.*2231C>G
ENST00000311895.8:c.2537C>G MANE Select	ENSP00000310520.7:p.Pro846Arg
ENST00000311895.7:c.2537C>G	ENSP00000310520.7:p.Pro846Arg
ENST00000389138.7:n.1814C>G
NM_005236.2:c.2537C>G , LRG_463t1:c.2537C>G	NP_005227.1:p.Pro846Arg
XM_011522424.1:c.2675C>G	XP_011520726.1:p.Pro892Arg
XM_011522425.1:c.1994C>G	XP_011520727.1:p.Pro665Arg
XM_011522426.1:c.1748C>G	XP_011520728.1:p.Pro583Arg
XM_011522427.1:c.1187C>G	XP_011520729.1:p.Pro396Arg
XR_932805.1:n.2696C>G
XM_011522424.3:c.2675C>G	XP_011520726.1:p.Pro892Arg
XM_017023043.2:c.1748C>G	XP_016878532.1:p.Pro583Arg
NM_005236.3:c.2537C>G MANE Select	NP_005227.1:p.Pro846Arg