Canonical Allele Identifier: CA394803096

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14022058C>A (hg19) ; chr16:g.13928201C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928201C>A , CM000678.2:g.13928201C>A	GRCh38
NC_000016.9:g.14022058C>A , CM000678.1:g.14022058C>A	GRCh37
NC_000016.8:g.13929559C>A	NCBI36
NG_011442.1:g.13045C>A , LRG_463:g.13045C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.746C>A
ENST00000682568.1:n.688C>A
ENST00000682617.1:c.896C>A	ENSP00000507912.1:p.Ser299Tyr
ENST00000682826.1:c.758C>A	ENSP00000507274.1:p.Ser253Tyr
ENST00000682909.1:n.2798C>A
ENST00000683277.1:n.2403C>A
ENST00000683407.1:n.766C>A
ENST00000683962.1:c.*452C>A	ENSP00000506854.1:n.*452C>A
ENST00000311895.8:c.758C>A MANE Select	ENSP00000310520.7:p.Ser253Tyr
ENST00000311895.7:c.758C>A	ENSP00000310520.7:p.Ser253Tyr
ENST00000574194.1:c.285C>A
ENST00000574781.1:n.435C>A
ENST00000575156.5:c.758C>A	ENSP00000459933.1:p.Ser253Tyr
NM_005236.2:c.758C>A , LRG_463t1:c.758C>A	NP_005227.1:p.Ser253Tyr
XM_011522424.1:c.896C>A	XP_011520726.1:p.Ser299Tyr
XM_011522425.1:c.215C>A	XP_011520727.1:p.Ser72Tyr
XR_932805.1:n.917C>A
XM_011522424.3:c.896C>A	XP_011520726.1:p.Ser299Tyr
XM_017023043.2:c.-180C>A	XP_016878532.1:n.-180C>A
NM_005236.3:c.758C>A MANE Select	NP_005227.1:p.Ser253Tyr