Canonical Allele Identifier: CA493689553

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1972664
• ClinVar RCV Id: RCV002750364
• dbSNP Id: rs1335536306
• gnomAD v2: 16-14029532-T-C
• gnomAD v3: 16-13935675-T-C
• gnomAD v4: 16-13935675-T-C
• MyVariant Identifiers: chr16:g.14029532T>C (hg19) ; chr16:g.13935675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935675T>C , CM000678.2:g.13935675T>C	GRCh38
NC_000016.9:g.14029532T>C , CM000678.1:g.14029532T>C	GRCh37
NC_000016.8:g.13937033T>C	NCBI36
NG_011442.1:g.20519T>C , LRG_463:g.20519T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1821T>C
ENST00000682617.1:c.1881T>C	ENSP00000507912.1:p.Tyr627=
ENST00000682826.1:c.*1057T>C	ENSP00000507274.1:n.*1057T>C
ENST00000682909.1:n.3783T>C
ENST00000683277.1:n.3388T>C
ENST00000683407.1:n.1751T>C
ENST00000683962.1:c.*1437T>C	ENSP00000506854.1:n.*1437T>C
ENST00000311895.8:c.1743T>C MANE Select	ENSP00000310520.7:p.Tyr581=
ENST00000311895.7:c.1743T>C	ENSP00000310520.7:p.Tyr581=
ENST00000389138.7:n.1020T>C
NM_005236.2:c.1743T>C , LRG_463t1:c.1743T>C	NP_005227.1:p.Tyr581=
XM_011522424.1:c.1881T>C	XP_011520726.1:p.Tyr627=
XM_011522425.1:c.1200T>C	XP_011520727.1:p.Tyr400=
XM_011522426.1:c.954T>C	XP_011520728.1:p.Tyr318=
XM_011522427.1:c.393T>C	XP_011520729.1:p.Tyr131=
XR_932805.1:n.1902T>C
XM_011522424.3:c.1881T>C	XP_011520726.1:p.Tyr627=
XM_017023043.2:c.954T>C	XP_016878532.1:p.Tyr318=
NM_005236.3:c.1743T>C MANE Select	NP_005227.1:p.Tyr581=