Canonical Allele Identifier: CA394812682

Gene: ERCC4

Linked Data

• dbSNP Id: rs766652186
• gnomAD v2: 16-14029560-C-T
• gnomAD v3: 16-13935703-C-T
• gnomAD v4: 16-13935703-C-T
• MyVariant Identifiers: chr16:g.14029560C>T (hg19) ; chr16:g.13935703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935703C>T , CM000678.2:g.13935703C>T	GRCh38
NC_000016.9:g.14029560C>T , CM000678.1:g.14029560C>T	GRCh37
NC_000016.8:g.13937061C>T	NCBI36
NG_011442.1:g.20547C>T , LRG_463:g.20547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1849C>T
ENST00000682617.1:c.1909C>T	ENSP00000507912.1:p.Leu637Phe
ENST00000682826.1:c.*1085C>T	ENSP00000507274.1:n.*1085C>T
ENST00000682909.1:n.3811C>T
ENST00000683277.1:n.3416C>T
ENST00000683407.1:n.1779C>T
ENST00000683962.1:c.*1465C>T	ENSP00000506854.1:n.*1465C>T
ENST00000311895.8:c.1771C>T MANE Select	ENSP00000310520.7:p.Leu591Phe
ENST00000311895.7:c.1771C>T	ENSP00000310520.7:p.Leu591Phe
ENST00000389138.7:n.1048C>T
NM_005236.2:c.1771C>T , LRG_463t1:c.1771C>T	NP_005227.1:p.Leu591Phe
XM_011522424.1:c.1909C>T	XP_011520726.1:p.Leu637Phe
XM_011522425.1:c.1228C>T	XP_011520727.1:p.Leu410Phe
XM_011522426.1:c.982C>T	XP_011520728.1:p.Leu328Phe
XM_011522427.1:c.421C>T	XP_011520729.1:p.Leu141Phe
XR_932805.1:n.1930C>T
XM_011522424.3:c.1909C>T	XP_011520726.1:p.Leu637Phe
XM_017023043.2:c.982C>T	XP_016878532.1:p.Leu328Phe
NM_005236.3:c.1771C>T MANE Select	NP_005227.1:p.Leu591Phe