Canonical Allele Identifier: CA394821682

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141619815
• MyVariant Identifiers: chr16:g.14041551C>A (hg19) ; chr16:g.13947694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947694C>A , CM000678.2:g.13947694C>A	GRCh38
NC_000016.9:g.14041551C>A , CM000678.1:g.14041551C>A	GRCh37
NC_000016.8:g.13949052C>A	NCBI36
NG_011442.1:g.32538C>A , LRG_463:g.32538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2236C>A	ENSP00000507912.1:p.His746Asn
ENST00000683962.1:c.*1792C>A	ENSP00000506854.1:n.*1792C>A
ENST00000311895.8:c.2098C>A MANE Select	ENSP00000310520.7:p.His700Asn
ENST00000311895.7:c.2098C>A	ENSP00000310520.7:p.His700Asn
ENST00000389138.7:n.1375C>A
ENST00000462862.1:c.411C>A	ENSP00000461322.1:n.411C>A
NM_005236.2:c.2098C>A , LRG_463t1:c.2098C>A	NP_005227.1:p.His700Asn
XM_011522424.1:c.2236C>A	XP_011520726.1:p.His746Asn
XM_011522425.1:c.1555C>A	XP_011520727.1:p.His519Asn
XM_011522426.1:c.1309C>A	XP_011520728.1:p.His437Asn
XM_011522427.1:c.748C>A	XP_011520729.1:p.His250Asn
XR_932805.1:n.2257C>A
XM_011522424.3:c.2236C>A	XP_011520726.1:p.His746Asn
XM_017023043.2:c.1309C>A	XP_016878532.1:p.His437Asn
NM_005236.3:c.2098C>A MANE Select	NP_005227.1:p.His700Asn