Canonical Allele Identifier: CA394823051

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041781T>G (hg19) ; chr16:g.13947924T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947924T>G , CM000678.2:g.13947924T>G	GRCh38
NC_000016.9:g.14041781T>G , CM000678.1:g.14041781T>G	GRCh37
NC_000016.8:g.13949282T>G	NCBI36
NG_011442.1:g.32768T>G , LRG_463:g.32768T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2466T>G	ENSP00000507912.1:p.Phe822Leu
ENST00000683962.1:c.*2022T>G	ENSP00000506854.1:n.*2022T>G
ENST00000311895.8:c.2328T>G MANE Select	ENSP00000310520.7:p.Phe776Leu
ENST00000311895.7:c.2328T>G	ENSP00000310520.7:p.Phe776Leu
ENST00000389138.7:n.1605T>G
ENST00000462862.1:c.641T>G	ENSP00000461322.1:n.641T>G
NM_005236.2:c.2328T>G , LRG_463t1:c.2328T>G	NP_005227.1:p.Phe776Leu
XM_011522424.1:c.2466T>G	XP_011520726.1:p.Phe822Leu
XM_011522425.1:c.1785T>G	XP_011520727.1:p.Phe595Leu
XM_011522426.1:c.1539T>G	XP_011520728.1:p.Phe513Leu
XM_011522427.1:c.978T>G	XP_011520729.1:p.Phe326Leu
XR_932805.1:n.2487T>G
XM_011522424.3:c.2466T>G	XP_011520726.1:p.Phe822Leu
XM_017023043.2:c.1539T>G	XP_016878532.1:p.Phe513Leu
NM_005236.3:c.2328T>G MANE Select	NP_005227.1:p.Phe776Leu