Canonical Allele Identifier: CA394817413

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038596G>T (hg19) ; chr16:g.13944739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944739G>T , CM000678.2:g.13944739G>T	GRCh38
NC_000016.9:g.14038596G>T , CM000678.1:g.14038596G>T	GRCh37
NC_000016.8:g.13946097G>T	NCBI36
NG_011442.1:g.29583G>T , LRG_463:g.29583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2059G>T	ENSP00000507912.1:p.Val687Phe
ENST00000683962.1:c.*1615G>T	ENSP00000506854.1:n.*1615G>T
ENST00000311895.8:c.1921G>T MANE Select	ENSP00000310520.7:p.Val641Phe
ENST00000311895.7:c.1921G>T	ENSP00000310520.7:p.Val641Phe
ENST00000389138.7:n.1198G>T
ENST00000462862.1:c.234G>T	ENSP00000461322.1:n.234G>T
NM_005236.2:c.1921G>T , LRG_463t1:c.1921G>T	NP_005227.1:p.Val641Phe
XM_011522424.1:c.2059G>T	XP_011520726.1:p.Val687Phe
XM_011522425.1:c.1378G>T	XP_011520727.1:p.Val460Phe
XM_011522426.1:c.1132G>T	XP_011520728.1:p.Val378Phe
XM_011522427.1:c.571G>T	XP_011520729.1:p.Val191Phe
XR_932805.1:n.2080G>T
XM_011522424.3:c.2059G>T	XP_011520726.1:p.Val687Phe
XM_017023043.2:c.1132G>T	XP_016878532.1:p.Val378Phe
NM_005236.3:c.1921G>T MANE Select	NP_005227.1:p.Val641Phe