Canonical Allele Identifier: CA493689796

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947843-C-G
• MyVariant Identifiers: chr16:g.14041700C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947843C>G , CM000678.2:g.13947843C>G	GRCh38
NC_000016.9:g.14041700C>G , CM000678.1:g.14041700C>G	GRCh37
NC_000016.8:g.13949201C>G	NCBI36
NG_011442.1:g.32687C>G , LRG_463:g.32687C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2385C>G	ENSP00000507912.1:p.Ser795=
ENST00000683962.1:c.*1941C>G	ENSP00000506854.1:n.*1941C>G
ENST00000311895.8:c.2247C>G MANE Select	ENSP00000310520.7:p.Ser749=
ENST00000311895.7:c.2247C>G	ENSP00000310520.7:p.Ser749=
ENST00000389138.7:n.1524C>G
ENST00000462862.1:c.560C>G	ENSP00000461322.1:n.560C>G
NM_005236.2:c.2247C>G , LRG_463t1:c.2247C>G	NP_005227.1:p.Ser749=
XM_011522424.1:c.2385C>G	XP_011520726.1:p.Ser795=
XM_011522425.1:c.1704C>G	XP_011520727.1:p.Ser568=
XM_011522426.1:c.1458C>G	XP_011520728.1:p.Ser486=
XM_011522427.1:c.897C>G	XP_011520729.1:p.Ser299=
XR_932805.1:n.2406C>G
XM_011522424.3:c.2385C>G	XP_011520726.1:p.Ser795=
XM_017023043.2:c.1458C>G	XP_016878532.1:p.Ser486=
NM_005236.3:c.2247C>G MANE Select	NP_005227.1:p.Ser749=