Canonical Allele Identifier: CA394823622

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041872C>G (hg19) ; chr16:g.13948015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948015C>G , CM000678.2:g.13948015C>G	GRCh38
NC_000016.9:g.14041872C>G , CM000678.1:g.14041872C>G	GRCh37
NC_000016.8:g.13949373C>G	NCBI36
NG_011442.1:g.32859C>G , LRG_463:g.32859C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2557C>G	ENSP00000507912.1:p.His853Asp
ENST00000683962.1:c.*2113C>G	ENSP00000506854.1:n.*2113C>G
ENST00000311895.8:c.2419C>G MANE Select	ENSP00000310520.7:p.His807Asp
ENST00000311895.7:c.2419C>G	ENSP00000310520.7:p.His807Asp
ENST00000389138.7:n.1696C>G
NM_005236.2:c.2419C>G , LRG_463t1:c.2419C>G	NP_005227.1:p.His807Asp
XM_011522424.1:c.2557C>G	XP_011520726.1:p.His853Asp
XM_011522425.1:c.1876C>G	XP_011520727.1:p.His626Asp
XM_011522426.1:c.1630C>G	XP_011520728.1:p.His544Asp
XM_011522427.1:c.1069C>G	XP_011520729.1:p.His357Asp
XR_932805.1:n.2578C>G
XM_011522424.3:c.2557C>G	XP_011520726.1:p.His853Asp
XM_017023043.2:c.1630C>G	XP_016878532.1:p.His544Asp
NM_005236.3:c.2419C>G MANE Select	NP_005227.1:p.His807Asp