Canonical Allele Identifier: CA394812236

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029446A>T (hg19) ; chr16:g.13935589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935589A>T , CM000678.2:g.13935589A>T	GRCh38
NC_000016.9:g.14029446A>T , CM000678.1:g.14029446A>T	GRCh37
NC_000016.8:g.13936947A>T	NCBI36
NG_011442.1:g.20433A>T , LRG_463:g.20433A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1735A>T
ENST00000682617.1:c.1795A>T	ENSP00000507912.1:p.Ile599Phe
ENST00000682826.1:c.*971A>T	ENSP00000507274.1:n.*971A>T
ENST00000682909.1:n.3697A>T
ENST00000683277.1:n.3302A>T
ENST00000683407.1:n.1665A>T
ENST00000683962.1:c.*1351A>T	ENSP00000506854.1:n.*1351A>T
ENST00000311895.8:c.1657A>T MANE Select	ENSP00000310520.7:p.Ile553Phe
ENST00000311895.7:c.1657A>T	ENSP00000310520.7:p.Ile553Phe
ENST00000389138.7:n.934A>T
NM_005236.2:c.1657A>T , LRG_463t1:c.1657A>T	NP_005227.1:p.Ile553Phe
XM_011522424.1:c.1795A>T	XP_011520726.1:p.Ile599Phe
XM_011522425.1:c.1114A>T	XP_011520727.1:p.Ile372Phe
XM_011522426.1:c.868A>T	XP_011520728.1:p.Ile290Phe
XM_011522427.1:c.307A>T	XP_011520729.1:p.Ile103Phe
XR_932805.1:n.1816A>T
XM_011522424.3:c.1795A>T	XP_011520726.1:p.Ile599Phe
XM_017023043.2:c.868A>T	XP_016878532.1:p.Ile290Phe
NM_005236.3:c.1657A>T MANE Select	NP_005227.1:p.Ile553Phe