Canonical Allele Identifier: CA7910527

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1388082
• ClinVar RCV Id: RCV001908288
• dbSNP Id: rs775278986
• ExAC: 16:14029535 C / G
• gnomAD v2: 16-14029535-C-G
• gnomAD v3: 16-13935678-C-G
• gnomAD v4: 16-13935678-C-G
• MyVariant Identifiers: chr16:g.14029535C>G (hg19) ; chr16:g.13935678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935678C>G , CM000678.2:g.13935678C>G	GRCh38
NC_000016.9:g.14029535C>G , CM000678.1:g.14029535C>G	GRCh37
NC_000016.8:g.13937036C>G	NCBI36
NG_011442.1:g.20522C>G , LRG_463:g.20522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1824C>G
ENST00000682617.1:c.1884C>G	ENSP00000507912.1:p.Asp628Glu
ENST00000682826.1:c.*1060C>G	ENSP00000507274.1:n.*1060C>G
ENST00000682909.1:n.3786C>G
ENST00000683277.1:n.3391C>G
ENST00000683407.1:n.1754C>G
ENST00000683962.1:c.*1440C>G	ENSP00000506854.1:n.*1440C>G
ENST00000311895.8:c.1746C>G MANE Select	ENSP00000310520.7:p.Asp582Glu
ENST00000311895.7:c.1746C>G	ENSP00000310520.7:p.Asp582Glu
ENST00000389138.7:n.1023C>G
NM_005236.2:c.1746C>G , LRG_463t1:c.1746C>G	NP_005227.1:p.Asp582Glu
XM_011522424.1:c.1884C>G	XP_011520726.1:p.Asp628Glu
XM_011522425.1:c.1203C>G	XP_011520727.1:p.Asp401Glu
XM_011522426.1:c.957C>G	XP_011520728.1:p.Asp319Glu
XM_011522427.1:c.396C>G	XP_011520729.1:p.Asp132Glu
XR_932805.1:n.1905C>G
XM_011522424.3:c.1884C>G	XP_011520726.1:p.Asp628Glu
XM_017023043.2:c.957C>G	XP_016878532.1:p.Asp319Glu
NM_005236.3:c.1746C>G MANE Select	NP_005227.1:p.Asp582Glu