Canonical Allele Identifier: CA493444452

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948176-C-G
• MyVariant Identifiers: chr16:g.14042033C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948176C>G , CM000678.2:g.13948176C>G	GRCh38
NC_000016.9:g.14042033C>G , CM000678.1:g.14042033C>G	GRCh37
NC_000016.8:g.13949534C>G	NCBI36
NG_011442.1:g.33020C>G , LRG_463:g.33020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2718C>G	ENSP00000507912.1:p.Ala906=
ENST00000683962.1:c.*2274C>G	ENSP00000506854.1:n.*2274C>G
ENST00000311895.8:c.2580C>G MANE Select	ENSP00000310520.7:p.Ala860=
ENST00000311895.7:c.2580C>G	ENSP00000310520.7:p.Ala860=
ENST00000389138.7:n.1857C>G
NM_005236.2:c.2580C>G , LRG_463t1:c.2580C>G	NP_005227.1:p.Ala860=
XM_011522424.1:c.2718C>G	XP_011520726.1:p.Ala906=
XM_011522425.1:c.2037C>G	XP_011520727.1:p.Ala679=
XM_011522426.1:c.1791C>G	XP_011520728.1:p.Ala597=
XM_011522427.1:c.1230C>G	XP_011520729.1:p.Ala410=
XR_932805.1:n.2739C>G
XM_011522424.3:c.2718C>G	XP_011520726.1:p.Ala906=
XM_017023043.2:c.1791C>G	XP_016878532.1:p.Ala597=
NM_005236.3:c.2580C>G MANE Select	NP_005227.1:p.Ala860=