Canonical Allele Identifier: CA394822890

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947892-C-G
• MyVariant Identifiers: chr16:g.14041749C>G (hg19) ; chr16:g.13947892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947892C>G , CM000678.2:g.13947892C>G	GRCh38
NC_000016.9:g.14041749C>G , CM000678.1:g.14041749C>G	GRCh37
NC_000016.8:g.13949250C>G	NCBI36
NG_011442.1:g.32736C>G , LRG_463:g.32736C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2434C>G	ENSP00000507912.1:p.Pro812Ala
ENST00000683962.1:c.*1990C>G	ENSP00000506854.1:n.*1990C>G
ENST00000311895.8:c.2296C>G MANE Select	ENSP00000310520.7:p.Pro766Ala
ENST00000311895.7:c.2296C>G	ENSP00000310520.7:p.Pro766Ala
ENST00000389138.7:n.1573C>G
ENST00000462862.1:c.609C>G	ENSP00000461322.1:n.609C>G
NM_005236.2:c.2296C>G , LRG_463t1:c.2296C>G	NP_005227.1:p.Pro766Ala
XM_011522424.1:c.2434C>G	XP_011520726.1:p.Pro812Ala
XM_011522425.1:c.1753C>G	XP_011520727.1:p.Pro585Ala
XM_011522426.1:c.1507C>G	XP_011520728.1:p.Pro503Ala
XM_011522427.1:c.946C>G	XP_011520729.1:p.Pro316Ala
XR_932805.1:n.2455C>G
XM_011522424.3:c.2434C>G	XP_011520726.1:p.Pro812Ala
XM_017023043.2:c.1507C>G	XP_016878532.1:p.Pro503Ala
NM_005236.3:c.2296C>G MANE Select	NP_005227.1:p.Pro766Ala