Canonical Allele Identifier: CA394812653

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029551G>T (hg19) ; chr16:g.13935694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935694G>T , CM000678.2:g.13935694G>T	GRCh38
NC_000016.9:g.14029551G>T , CM000678.1:g.14029551G>T	GRCh37
NC_000016.8:g.13937052G>T	NCBI36
NG_011442.1:g.20538G>T , LRG_463:g.20538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1840G>T
ENST00000682617.1:c.1900G>T	ENSP00000507912.1:p.Val634Phe
ENST00000682826.1:c.*1076G>T	ENSP00000507274.1:n.*1076G>T
ENST00000682909.1:n.3802G>T
ENST00000683277.1:n.3407G>T
ENST00000683407.1:n.1770G>T
ENST00000683962.1:c.*1456G>T	ENSP00000506854.1:n.*1456G>T
ENST00000311895.8:c.1762G>T MANE Select	ENSP00000310520.7:p.Val588Phe
ENST00000311895.7:c.1762G>T	ENSP00000310520.7:p.Val588Phe
ENST00000389138.7:n.1039G>T
NM_005236.2:c.1762G>T , LRG_463t1:c.1762G>T	NP_005227.1:p.Val588Phe
XM_011522424.1:c.1900G>T	XP_011520726.1:p.Val634Phe
XM_011522425.1:c.1219G>T	XP_011520727.1:p.Val407Phe
XM_011522426.1:c.973G>T	XP_011520728.1:p.Val325Phe
XM_011522427.1:c.412G>T	XP_011520729.1:p.Val138Phe
XR_932805.1:n.1921G>T
XM_011522424.3:c.1900G>T	XP_011520726.1:p.Val634Phe
XM_017023043.2:c.973G>T	XP_016878532.1:p.Val325Phe
NM_005236.3:c.1762G>T MANE Select	NP_005227.1:p.Val588Phe