Canonical Allele Identifier: CA7910754

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317823
• ClinVar RCV Id: RCV000358179 ; RCV002522814
• dbSNP Id: rs138583819
• ExAC: 16:14041953 G / T
• gnomAD v2: 16-14041953-G-T
• gnomAD v3: 16-13948096-G-T
• gnomAD v4: 16-13948096-G-T
• MyVariant Identifiers: chr16:g.14041953G>T (hg19) ; chr16:g.13948096G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948096G>T , CM000678.2:g.13948096G>T	GRCh38
NC_000016.9:g.14041953G>T , CM000678.1:g.14041953G>T	GRCh37
NC_000016.8:g.13949454G>T	NCBI36
NG_011442.1:g.32940G>T , LRG_463:g.32940G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2638G>T	ENSP00000507912.1:p.Asp880Tyr
ENST00000683962.1:c.*2194G>T	ENSP00000506854.1:n.*2194G>T
ENST00000311895.8:c.2500G>T MANE Select	ENSP00000310520.7:p.Asp834Tyr
ENST00000311895.7:c.2500G>T	ENSP00000310520.7:p.Asp834Tyr
ENST00000389138.7:n.1777G>T
NM_005236.2:c.2500G>T , LRG_463t1:c.2500G>T	NP_005227.1:p.Asp834Tyr
XM_011522424.1:c.2638G>T	XP_011520726.1:p.Asp880Tyr
XM_011522425.1:c.1957G>T	XP_011520727.1:p.Asp653Tyr
XM_011522426.1:c.1711G>T	XP_011520728.1:p.Asp571Tyr
XM_011522427.1:c.1150G>T	XP_011520729.1:p.Asp384Tyr
XR_932805.1:n.2659G>T
XM_011522424.3:c.2638G>T	XP_011520726.1:p.Asp880Tyr
XM_017023043.2:c.1711G>T	XP_016878532.1:p.Asp571Tyr
NM_005236.3:c.2500G>T MANE Select	NP_005227.1:p.Asp834Tyr