Canonical Allele Identifier: CA394822214

Gene: ERCC4

Linked Data

• dbSNP Id: rs1567253637
• gnomAD v3: 16-13947749-T-C
• gnomAD v4: 16-13947749-T-C
• MyVariant Identifiers: chr16:g.14041606T>C (hg19) ; chr16:g.13947749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947749T>C , CM000678.2:g.13947749T>C	GRCh38
NC_000016.9:g.14041606T>C , CM000678.1:g.14041606T>C	GRCh37
NC_000016.8:g.13949107T>C	NCBI36
NG_011442.1:g.32593T>C , LRG_463:g.32593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2291T>C	ENSP00000507912.1:p.Leu764Pro
ENST00000683962.1:c.*1847T>C	ENSP00000506854.1:n.*1847T>C
ENST00000311895.8:c.2153T>C MANE Select	ENSP00000310520.7:p.Leu718Pro
ENST00000311895.7:c.2153T>C	ENSP00000310520.7:p.Leu718Pro
ENST00000389138.7:n.1430T>C
ENST00000462862.1:c.466T>C	ENSP00000461322.1:n.466T>C
NM_005236.2:c.2153T>C , LRG_463t1:c.2153T>C	NP_005227.1:p.Leu718Pro
XM_011522424.1:c.2291T>C	XP_011520726.1:p.Leu764Pro
XM_011522425.1:c.1610T>C	XP_011520727.1:p.Leu537Pro
XM_011522426.1:c.1364T>C	XP_011520728.1:p.Leu455Pro
XM_011522427.1:c.803T>C	XP_011520729.1:p.Leu268Pro
XR_932805.1:n.2312T>C
XM_011522424.3:c.2291T>C	XP_011520726.1:p.Leu764Pro
XM_017023043.2:c.1364T>C	XP_016878532.1:p.Leu455Pro
NM_005236.3:c.2153T>C MANE Select	NP_005227.1:p.Leu718Pro