Canonical Allele Identifier: CA394822461

Gene: ERCC4

Linked Data

• dbSNP Id: rs1309508247
• gnomAD v2: 16-14041651-T-G
• gnomAD v4: 16-13947794-T-G
• MyVariant Identifiers: chr16:g.14041651T>G (hg19) ; chr16:g.13947794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947794T>G , CM000678.2:g.13947794T>G	GRCh38
NC_000016.9:g.14041651T>G , CM000678.1:g.14041651T>G	GRCh37
NC_000016.8:g.13949152T>G	NCBI36
NG_011442.1:g.32638T>G , LRG_463:g.32638T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2336T>G	ENSP00000507912.1:p.Ile779Ser
ENST00000683962.1:c.*1892T>G	ENSP00000506854.1:n.*1892T>G
ENST00000311895.8:c.2198T>G MANE Select	ENSP00000310520.7:p.Ile733Ser
ENST00000311895.7:c.2198T>G	ENSP00000310520.7:p.Ile733Ser
ENST00000389138.7:n.1475T>G
ENST00000462862.1:c.511T>G	ENSP00000461322.1:n.511T>G
NM_005236.2:c.2198T>G , LRG_463t1:c.2198T>G	NP_005227.1:p.Ile733Ser
XM_011522424.1:c.2336T>G	XP_011520726.1:p.Ile779Ser
XM_011522425.1:c.1655T>G	XP_011520727.1:p.Ile552Ser
XM_011522426.1:c.1409T>G	XP_011520728.1:p.Ile470Ser
XM_011522427.1:c.848T>G	XP_011520729.1:p.Ile283Ser
XR_932805.1:n.2357T>G
XM_011522424.3:c.2336T>G	XP_011520726.1:p.Ile779Ser
XM_017023043.2:c.1409T>G	XP_016878532.1:p.Ile470Ser
NM_005236.3:c.2198T>G MANE Select	NP_005227.1:p.Ile733Ser