Canonical Allele Identifier: CA394824543

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032560796
• gnomAD v4: 16-13948196-T-G
• MyVariant Identifiers: chr16:g.14042053T>G (hg19) ; chr16:g.13948196T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948196T>G , CM000678.2:g.13948196T>G	GRCh38
NC_000016.9:g.14042053T>G , CM000678.1:g.14042053T>G	GRCh37
NC_000016.8:g.13949554T>G	NCBI36
NG_011442.1:g.33040T>G , LRG_463:g.33040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2738T>G	ENSP00000507912.1:p.Met913Arg
ENST00000683962.1:c.*2294T>G	ENSP00000506854.1:n.*2294T>G
ENST00000311895.8:c.2600T>G MANE Select	ENSP00000310520.7:p.Met867Arg
ENST00000311895.7:c.2600T>G	ENSP00000310520.7:p.Met867Arg
ENST00000389138.7:n.1877T>G
NM_005236.2:c.2600T>G , LRG_463t1:c.2600T>G	NP_005227.1:p.Met867Arg
XM_011522424.1:c.2738T>G	XP_011520726.1:p.Met913Arg
XM_011522425.1:c.2057T>G	XP_011520727.1:p.Met686Arg
XM_011522426.1:c.1811T>G	XP_011520728.1:p.Met604Arg
XM_011522427.1:c.1250T>G	XP_011520729.1:p.Met417Arg
XR_932805.1:n.2759T>G
XM_011522424.3:c.2738T>G	XP_011520726.1:p.Met913Arg
XM_017023043.2:c.1811T>G	XP_016878532.1:p.Met604Arg
NM_005236.3:c.2600T>G MANE Select	NP_005227.1:p.Met867Arg