Canonical Allele Identifier: CA7910507

Gene: ERCC4

Linked Data

• dbSNP Id: rs770347803
• ExAC: 16:14029438 C / T
• gnomAD v2: 16-14029438-C-T
• gnomAD v4: 16-13935581-C-T
• MyVariant Identifiers: chr16:g.14029438C>T (hg19) ; chr16:g.13935581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935581C>T , CM000678.2:g.13935581C>T	GRCh38
NC_000016.9:g.14029438C>T , CM000678.1:g.14029438C>T	GRCh37
NC_000016.8:g.13936939C>T	NCBI36
NG_011442.1:g.20425C>T , LRG_463:g.20425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1727C>T
ENST00000682617.1:c.1787C>T	ENSP00000507912.1:p.Pro596Leu
ENST00000682826.1:c.*963C>T	ENSP00000507274.1:n.*963C>T
ENST00000682909.1:n.3689C>T
ENST00000683277.1:n.3294C>T
ENST00000683407.1:n.1657C>T
ENST00000683962.1:c.*1343C>T	ENSP00000506854.1:n.*1343C>T
ENST00000311895.8:c.1649C>T MANE Select	ENSP00000310520.7:p.Pro550Leu
ENST00000311895.7:c.1649C>T	ENSP00000310520.7:p.Pro550Leu
ENST00000389138.7:n.926C>T
NM_005236.2:c.1649C>T , LRG_463t1:c.1649C>T	NP_005227.1:p.Pro550Leu
XM_011522424.1:c.1787C>T	XP_011520726.1:p.Pro596Leu
XM_011522425.1:c.1106C>T	XP_011520727.1:p.Pro369Leu
XM_011522426.1:c.860C>T	XP_011520728.1:p.Pro287Leu
XM_011522427.1:c.299C>T	XP_011520729.1:p.Pro100Leu
XR_932805.1:n.1808C>T
XM_011522424.3:c.1787C>T	XP_011520726.1:p.Pro596Leu
XM_017023043.2:c.860C>T	XP_016878532.1:p.Pro287Leu
NM_005236.3:c.1649C>T MANE Select	NP_005227.1:p.Pro550Leu