Canonical Allele Identifier: CA394817836

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038644G>T (hg19) ; chr16:g.13944787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944787G>T , CM000678.2:g.13944787G>T	GRCh38
NC_000016.9:g.14038644G>T , CM000678.1:g.14038644G>T	GRCh37
NC_000016.8:g.13946145G>T	NCBI36
NG_011442.1:g.29631G>T , LRG_463:g.29631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2107G>T	ENSP00000507912.1:p.Val703Leu
ENST00000683962.1:c.*1663G>T	ENSP00000506854.1:n.*1663G>T
ENST00000311895.8:c.1969G>T MANE Select	ENSP00000310520.7:p.Val657Leu
ENST00000311895.7:c.1969G>T	ENSP00000310520.7:p.Val657Leu
ENST00000389138.7:n.1246G>T
ENST00000462862.1:c.282G>T	ENSP00000461322.1:n.282G>T
NM_005236.2:c.1969G>T , LRG_463t1:c.1969G>T	NP_005227.1:p.Val657Leu
XM_011522424.1:c.2107G>T	XP_011520726.1:p.Val703Leu
XM_011522425.1:c.1426G>T	XP_011520727.1:p.Val476Leu
XM_011522426.1:c.1180G>T	XP_011520728.1:p.Val394Leu
XM_011522427.1:c.619G>T	XP_011520729.1:p.Val207Leu
XR_932805.1:n.2128G>T
XM_011522424.3:c.2107G>T	XP_011520726.1:p.Val703Leu
XM_017023043.2:c.1180G>T	XP_016878532.1:p.Val394Leu
NM_005236.3:c.1969G>T MANE Select	NP_005227.1:p.Val657Leu