Canonical Allele Identifier: CA394817248

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038584A>T (hg19) ; chr16:g.13944727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944727A>T , CM000678.2:g.13944727A>T	GRCh38
NC_000016.9:g.14038584A>T , CM000678.1:g.14038584A>T	GRCh37
NC_000016.8:g.13946085A>T	NCBI36
NG_011442.1:g.29571A>T , LRG_463:g.29571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2047A>T	ENSP00000507912.1:p.Lys683Ter
ENST00000683962.1:c.*1603A>T	ENSP00000506854.1:n.*1603A>T
ENST00000311895.8:c.1909A>T MANE Select	ENSP00000310520.7:p.Lys637Ter
ENST00000311895.7:c.1909A>T	ENSP00000310520.7:p.Lys637Ter
ENST00000389138.7:n.1186A>T
ENST00000462862.1:c.222A>T	ENSP00000461322.1:n.222A>T
NM_005236.2:c.1909A>T , LRG_463t1:c.1909A>T	NP_005227.1:p.Lys637Ter
XM_011522424.1:c.2047A>T	XP_011520726.1:p.Lys683Ter
XM_011522425.1:c.1366A>T	XP_011520727.1:p.Lys456Ter
XM_011522426.1:c.1120A>T	XP_011520728.1:p.Lys374Ter
XM_011522427.1:c.559A>T	XP_011520729.1:p.Lys187Ter
XR_932805.1:n.2068A>T
XM_011522424.3:c.2047A>T	XP_011520726.1:p.Lys683Ter
XM_017023043.2:c.1120A>T	XP_016878532.1:p.Lys374Ter
NM_005236.3:c.1909A>T MANE Select	NP_005227.1:p.Lys637Ter