Canonical Allele Identifier: CA493690091

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948059-A-T
• MyVariant Identifiers: chr16:g.14041916A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948059A>T , CM000678.2:g.13948059A>T	GRCh38
NC_000016.9:g.14041916A>T , CM000678.1:g.14041916A>T	GRCh37
NC_000016.8:g.13949417A>T	NCBI36
NG_011442.1:g.32903A>T , LRG_463:g.32903A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2601A>T	ENSP00000507912.1:p.Pro867=
ENST00000683962.1:c.*2157A>T	ENSP00000506854.1:n.*2157A>T
ENST00000311895.8:c.2463A>T MANE Select	ENSP00000310520.7:p.Pro821=
ENST00000311895.7:c.2463A>T	ENSP00000310520.7:p.Pro821=
ENST00000389138.7:n.1740A>T
NM_005236.2:c.2463A>T , LRG_463t1:c.2463A>T	NP_005227.1:p.Pro821=
XM_011522424.1:c.2601A>T	XP_011520726.1:p.Pro867=
XM_011522425.1:c.1920A>T	XP_011520727.1:p.Pro640=
XM_011522426.1:c.1674A>T	XP_011520728.1:p.Pro558=
XM_011522427.1:c.1113A>T	XP_011520729.1:p.Pro371=
XR_932805.1:n.2622A>T
XM_011522424.3:c.2601A>T	XP_011520726.1:p.Pro867=
XM_017023043.2:c.1674A>T	XP_016878532.1:p.Pro558=
NM_005236.3:c.2463A>T MANE Select	NP_005227.1:p.Pro821=