Canonical Allele Identifier: CA394822704

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947847-T-C
• COSMIC: COSM4911744
• MyVariant Identifiers: chr16:g.14041704T>C (hg19) ; chr16:g.13947847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947847T>C , CM000678.2:g.13947847T>C	GRCh38
NC_000016.9:g.14041704T>C , CM000678.1:g.14041704T>C	GRCh37
NC_000016.8:g.13949205T>C	NCBI36
NG_011442.1:g.32691T>C , LRG_463:g.32691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2389T>C	ENSP00000507912.1:p.Tyr797His
ENST00000683962.1:c.*1945T>C	ENSP00000506854.1:n.*1945T>C
ENST00000311895.8:c.2251T>C MANE Select	ENSP00000310520.7:p.Tyr751His
ENST00000311895.7:c.2251T>C	ENSP00000310520.7:p.Tyr751His
ENST00000389138.7:n.1528T>C
ENST00000462862.1:c.564T>C	ENSP00000461322.1:n.564T>C
NM_005236.2:c.2251T>C , LRG_463t1:c.2251T>C	NP_005227.1:p.Tyr751His
XM_011522424.1:c.2389T>C	XP_011520726.1:p.Tyr797His
XM_011522425.1:c.1708T>C	XP_011520727.1:p.Tyr570His
XM_011522426.1:c.1462T>C	XP_011520728.1:p.Tyr488His
XM_011522427.1:c.901T>C	XP_011520729.1:p.Tyr301His
XR_932805.1:n.2410T>C
XM_011522424.3:c.2389T>C	XP_011520726.1:p.Tyr797His
XM_017023043.2:c.1462T>C	XP_016878532.1:p.Tyr488His
NM_005236.3:c.2251T>C MANE Select	NP_005227.1:p.Tyr751His