Canonical Allele Identifier: CA394812718

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029569T>C (hg19) ; chr16:g.13935712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935712T>C , CM000678.2:g.13935712T>C	GRCh38
NC_000016.9:g.14029569T>C , CM000678.1:g.14029569T>C	GRCh37
NC_000016.8:g.13937070T>C	NCBI36
NG_011442.1:g.20556T>C , LRG_463:g.20556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1858T>C
ENST00000682617.1:c.1918T>C	ENSP00000507912.1:p.Tyr640His
ENST00000682826.1:c.*1094T>C	ENSP00000507274.1:n.*1094T>C
ENST00000682909.1:n.3820T>C
ENST00000683277.1:n.3425T>C
ENST00000683407.1:n.1788T>C
ENST00000683962.1:c.*1474T>C	ENSP00000506854.1:n.*1474T>C
ENST00000311895.8:c.1780T>C MANE Select	ENSP00000310520.7:p.Tyr594His
ENST00000311895.7:c.1780T>C	ENSP00000310520.7:p.Tyr594His
ENST00000389138.7:n.1057T>C
NM_005236.2:c.1780T>C , LRG_463t1:c.1780T>C	NP_005227.1:p.Tyr594His
XM_011522424.1:c.1918T>C	XP_011520726.1:p.Tyr640His
XM_011522425.1:c.1237T>C	XP_011520727.1:p.Tyr413His
XM_011522426.1:c.991T>C	XP_011520728.1:p.Tyr331His
XM_011522427.1:c.430T>C	XP_011520729.1:p.Tyr144His
XR_932805.1:n.1939T>C
XM_011522424.3:c.1918T>C	XP_011520726.1:p.Tyr640His
XM_017023043.2:c.991T>C	XP_016878532.1:p.Tyr331His
NM_005236.3:c.1780T>C MANE Select	NP_005227.1:p.Tyr594His