Canonical Allele Identifier: CA7910255
Gene: ERCC4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.13928157G>A
GRCh37 chr16:g.14022014G>A
gnomAD v2:
16:14022014 G / A
gnomAD v3:
16:13928157 G / A
gnomAD v4:
chr16-13928157-G-A
Joint Max Group AF 0.00017487 (NFE)
Genomes Max Group AF 0.00009047 (NFE)
Exomes Max Group AF 0.00017618 (NFE)
ClinVar Allele:
529465
ClinVar RCV:
RCV000651473
ClinVar Variation:
541247
dbSNP:
780166871
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13928157G>A , CM000678.2:g.13928157G>A GRCh38
NC_000016.9:g.14022014G>A , CM000678.1:g.14022014G>A GRCh37
NC_000016.8:g.13929515G>A NCBI36
NG_011442.1:g.13001G>A , LRG_463:g.13001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682552.1:n.702G>A
ENST00000682568.1:n.644G>A
ENST00000682617.1:c.852G>A ENSP00000507912.1:p.Lys284=
ENST00000682826.1:c.714G>A ENSP00000507274.1:p.Lys238=
ENST00000682909.1:n.2754G>A
ENST00000683277.1:n.2359G>A
ENST00000683407.1:n.722G>A
ENST00000683962.1:c.*408G>A ENSP00000506854.1:n.*408G>A
ENST00000311895.8:c.714G>A MANE Select ENSP00000310520.7:p.Lys238=
ENST00000311895.7:c.714G>A ENSP00000310520.7:p.Lys238=
ENST00000574194.1:c.241G>A
ENST00000574781.1:n.391G>A
ENST00000575156.5:c.714G>A ENSP00000459933.1:p.Lys238=
NM_005236.2:c.714G>A , LRG_463t1:c.714G>A NP_005227.1:p.Lys238=
XM_011522424.1:c.852G>A XP_011520726.1:p.Lys284=
XM_011522425.1:c.171G>A XP_011520727.1:p.Lys57=
XR_932805.1:n.873G>A
XM_011522424.3:c.852G>A XP_011520726.1:p.Lys284=
XM_017023043.2:c.-224G>A XP_016878532.1:n.-224G>A
NM_005236.3:c.714G>A MANE Select NP_005227.1:p.Lys238=
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