Canonical Allele Identifier: CA7910538

Gene: ERCC4

Linked Data

• dbSNP Id: rs753641687
• ExAC: 16:14029585 C / T
• gnomAD v2: 16-14029585-C-T
• gnomAD v4: 16-13935728-C-T
• MyVariant Identifiers: chr16:g.14029585C>T (hg19) ; chr16:g.13935728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935728C>T , CM000678.2:g.13935728C>T	GRCh38
NC_000016.9:g.14029585C>T , CM000678.1:g.14029585C>T	GRCh37
NC_000016.8:g.13937086C>T	NCBI36
NG_011442.1:g.20572C>T , LRG_463:g.20572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1874C>T
ENST00000682617.1:c.1934C>T	ENSP00000507912.1:p.Pro645Leu
ENST00000682826.1:c.*1110C>T	ENSP00000507274.1:n.*1110C>T
ENST00000682909.1:n.3836C>T
ENST00000683277.1:n.3441C>T
ENST00000683407.1:n.1804C>T
ENST00000683962.1:c.*1490C>T	ENSP00000506854.1:n.*1490C>T
ENST00000311895.8:c.1796C>T MANE Select	ENSP00000310520.7:p.Pro599Leu
ENST00000311895.7:c.1796C>T	ENSP00000310520.7:p.Pro599Leu
ENST00000389138.7:n.1073C>T
NM_005236.2:c.1796C>T , LRG_463t1:c.1796C>T	NP_005227.1:p.Pro599Leu
XM_011522424.1:c.1934C>T	XP_011520726.1:p.Pro645Leu
XM_011522425.1:c.1253C>T	XP_011520727.1:p.Pro418Leu
XM_011522426.1:c.1007C>T	XP_011520728.1:p.Pro336Leu
XM_011522427.1:c.446C>T	XP_011520729.1:p.Pro149Leu
XR_932805.1:n.1955C>T
XM_011522424.3:c.1934C>T	XP_011520726.1:p.Pro645Leu
XM_017023043.2:c.1007C>T	XP_016878532.1:p.Pro336Leu
NM_005236.3:c.1796C>T MANE Select	NP_005227.1:p.Pro599Leu