Canonical Allele Identifier: CA394812550

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1003655
• ClinVar RCV Id: RCV001300231 ; RCV002258186
• dbSNP Id: rs2032274770
• gnomAD v4: 16-13935671-T-C
• MyVariant Identifiers: chr16:g.14029528T>C (hg19) ; chr16:g.13935671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935671T>C , CM000678.2:g.13935671T>C	GRCh38
NC_000016.9:g.14029528T>C , CM000678.1:g.14029528T>C	GRCh37
NC_000016.8:g.13937029T>C	NCBI36
NG_011442.1:g.20515T>C , LRG_463:g.20515T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1817T>C
ENST00000682617.1:c.1877T>C	ENSP00000507912.1:p.Leu626Pro
ENST00000682826.1:c.*1053T>C	ENSP00000507274.1:n.*1053T>C
ENST00000682909.1:n.3779T>C
ENST00000683277.1:n.3384T>C
ENST00000683407.1:n.1747T>C
ENST00000683962.1:c.*1433T>C	ENSP00000506854.1:n.*1433T>C
ENST00000311895.8:c.1739T>C MANE Select	ENSP00000310520.7:p.Leu580Pro
ENST00000311895.7:c.1739T>C	ENSP00000310520.7:p.Leu580Pro
ENST00000389138.7:n.1016T>C
NM_005236.2:c.1739T>C , LRG_463t1:c.1739T>C	NP_005227.1:p.Leu580Pro
XM_011522424.1:c.1877T>C	XP_011520726.1:p.Leu626Pro
XM_011522425.1:c.1196T>C	XP_011520727.1:p.Leu399Pro
XM_011522426.1:c.950T>C	XP_011520728.1:p.Leu317Pro
XM_011522427.1:c.389T>C	XP_011520729.1:p.Leu130Pro
XR_932805.1:n.1898T>C
XM_011522424.3:c.1877T>C	XP_011520726.1:p.Leu626Pro
XM_017023043.2:c.950T>C	XP_016878532.1:p.Leu317Pro
NM_005236.3:c.1739T>C MANE Select	NP_005227.1:p.Leu580Pro