Canonical Allele Identifier: CA394817752

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038634C>A (hg19) ; chr16:g.13944777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944777C>A , CM000678.2:g.13944777C>A	GRCh38
NC_000016.9:g.14038634C>A , CM000678.1:g.14038634C>A	GRCh37
NC_000016.8:g.13946135C>A	NCBI36
NG_011442.1:g.29621C>A , LRG_463:g.29621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2097C>A	ENSP00000507912.1:p.Asn699Lys
ENST00000683962.1:c.*1653C>A	ENSP00000506854.1:n.*1653C>A
ENST00000311895.8:c.1959C>A MANE Select	ENSP00000310520.7:p.Asn653Lys
ENST00000311895.7:c.1959C>A	ENSP00000310520.7:p.Asn653Lys
ENST00000389138.7:n.1236C>A
ENST00000462862.1:c.272C>A	ENSP00000461322.1:n.272C>A
NM_005236.2:c.1959C>A , LRG_463t1:c.1959C>A	NP_005227.1:p.Asn653Lys
XM_011522424.1:c.2097C>A	XP_011520726.1:p.Asn699Lys
XM_011522425.1:c.1416C>A	XP_011520727.1:p.Asn472Lys
XM_011522426.1:c.1170C>A	XP_011520728.1:p.Asn390Lys
XM_011522427.1:c.609C>A	XP_011520729.1:p.Asn203Lys
XR_932805.1:n.2118C>A
XM_011522424.3:c.2097C>A	XP_011520726.1:p.Asn699Lys
XM_017023043.2:c.1170C>A	XP_016878532.1:p.Asn390Lys
NM_005236.3:c.1959C>A MANE Select	NP_005227.1:p.Asn653Lys