Canonical Allele Identifier: CA394812715

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029567T>G (hg19) ; chr16:g.13935710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935710T>G , CM000678.2:g.13935710T>G	GRCh38
NC_000016.9:g.14029567T>G , CM000678.1:g.14029567T>G	GRCh37
NC_000016.8:g.13937068T>G	NCBI36
NG_011442.1:g.20554T>G , LRG_463:g.20554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1856T>G
ENST00000682617.1:c.1916T>G	ENSP00000507912.1:p.Ile639Ser
ENST00000682826.1:c.*1092T>G	ENSP00000507274.1:n.*1092T>G
ENST00000682909.1:n.3818T>G
ENST00000683277.1:n.3423T>G
ENST00000683407.1:n.1786T>G
ENST00000683962.1:c.*1472T>G	ENSP00000506854.1:n.*1472T>G
ENST00000311895.8:c.1778T>G MANE Select	ENSP00000310520.7:p.Ile593Ser
ENST00000311895.7:c.1778T>G	ENSP00000310520.7:p.Ile593Ser
ENST00000389138.7:n.1055T>G
NM_005236.2:c.1778T>G , LRG_463t1:c.1778T>G	NP_005227.1:p.Ile593Ser
XM_011522424.1:c.1916T>G	XP_011520726.1:p.Ile639Ser
XM_011522425.1:c.1235T>G	XP_011520727.1:p.Ile412Ser
XM_011522426.1:c.989T>G	XP_011520728.1:p.Ile330Ser
XM_011522427.1:c.428T>G	XP_011520729.1:p.Ile143Ser
XR_932805.1:n.1937T>G
XM_011522424.3:c.1916T>G	XP_011520726.1:p.Ile639Ser
XM_017023043.2:c.989T>G	XP_016878532.1:p.Ile330Ser
NM_005236.3:c.1778T>G MANE Select	NP_005227.1:p.Ile593Ser