Canonical Allele Identifier: CA394802506

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14021958C>G (hg19) ; chr16:g.13928101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928101C>G , CM000678.2:g.13928101C>G	GRCh38
NC_000016.9:g.14021958C>G , CM000678.1:g.14021958C>G	GRCh37
NC_000016.8:g.13929459C>G	NCBI36
NG_011442.1:g.12945C>G , LRG_463:g.12945C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.646C>G
ENST00000682568.1:n.588C>G
ENST00000682617.1:c.796C>G	ENSP00000507912.1:p.Pro266Ala
ENST00000682826.1:c.658C>G	ENSP00000507274.1:p.Pro220Ala
ENST00000682909.1:n.2698C>G
ENST00000683277.1:n.2303C>G
ENST00000683407.1:n.666C>G
ENST00000683962.1:c.*352C>G	ENSP00000506854.1:n.*352C>G
ENST00000311895.8:c.658C>G MANE Select	ENSP00000310520.7:p.Pro220Ala
ENST00000311895.7:c.658C>G	ENSP00000310520.7:p.Pro220Ala
ENST00000574194.1:c.206-21C>G
ENST00000574781.1:n.335C>G
ENST00000575156.5:c.658C>G	ENSP00000459933.1:p.Pro220Ala
NM_005236.2:c.658C>G , LRG_463t1:c.658C>G	NP_005227.1:p.Pro220Ala
XM_011522424.1:c.796C>G	XP_011520726.1:p.Pro266Ala
XM_011522425.1:c.115C>G	XP_011520727.1:p.Pro39Ala
XR_932805.1:n.817C>G
XM_011522424.3:c.796C>G	XP_011520726.1:p.Pro266Ala
XM_017023043.2:c.-280C>G	XP_016878532.1:n.-280C>G
NM_005236.3:c.658C>G MANE Select	NP_005227.1:p.Pro220Ala