Canonical Allele Identifier: CA9515033
Gene: ERCC1 HGNC NCBI
POLR1G HGNC NCBI
ClinVar RCV:
RCV000224631
RCV000991189
RCV001777159
RCV003929929
ClinVar Variation:
235480
dbSNP:
3212989
gnomAD v2:
19:45912070 A / G
gnomAD v3:
19:45408812 A / G
gnomAD v4:
chr19-45408812-A-G
Joint Max Group AF 0.06832091 (AFR)
Genomes Max Group AF 0.06538919 (AFR)
Exomes Max Group AF 0.07050318 (AFR)
MyVariant.info:
GRCh38 chr19:g.45408812A>G
GRCh37 chr19:g.45912070A>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45408812A>G , CM000681.2:g.45408812A>G GRCh38
NC_000019.9:g.45912070A>G , CM000681.1:g.45912070A>G GRCh37
NC_000019.8:g.50603910A>G NCBI36
NG_015839.2:g.75017T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710953.1:c.*1096T>C (ERCC1) ENSP00000518553.1:n.*1096T>C
ENST00000300853.8:c.*863T>C (ERCC1) MANE Select ENSP00000300853.3:n.*863T>C
ENST00000309424.8:c.844A>G (POLR1G) MANE Select ENSP00000310966.3:p.Thr282Ala
ENST00000300853.7:c.*863T>C (ERCC1) ENSP00000300853.2:n.*863T>C
ENST00000309424.7:c.844A>G (POLR1G) ENSP00000310966.3:p.Thr282Ala
ENST00000423698.6:c.*863T>C (ERCC1) ENSP00000394875.2:n.*863T>C
ENST00000589804.1:c.850A>G (POLR1G) ENSP00000465099.1:p.Thr284Ala
NM_001166049.1:c.*863T>C (ERCC1) NP_001159521.1:n.*863T>C
NM_001297590.1:c.850A>G (POLR1G) NP_001284519.1:p.Thr284Ala
NM_001983.3:c.*863T>C (ERCC1) NP_001974.1:n.*863T>C
NM_012099.1:c.844A>G (POLR1G) NP_036231.1:p.Thr282Ala
XM_017026460.2:c.*863T>C (ERCC1) XP_016881949.1:n.*863T>C
XM_017026461.1:c.*863T>C (ERCC1) XP_016881950.1:n.*863T>C
XM_017026462.1:c.*863T>C (ERCC1) XP_016881951.1:n.*863T>C
XM_017026463.1:c.*863T>C (ERCC1) XP_016881952.1:n.*863T>C
XM_017026464.1:c.*863T>C (ERCC1) XP_016881953.1:n.*863T>C
XM_017026465.1:c.*863T>C (ERCC1) XP_016881954.1:n.*863T>C
XM_017026466.1:c.*863T>C (ERCC1) XP_016881955.1:n.*863T>C
XR_001753631.1:n.2343T>C (ERCC1)
XR_001753632.1:n.2813T>C (ERCC1)
NM_001166049.2:c.*863T>C (ERCC1) NP_001159521.1:n.*863T>C
NM_001297590.2:c.850A>G (POLR1G) NP_001284519.1:p.Thr284Ala
NM_001369412.1:c.*863T>C (ERCC1) NP_001356341.1:n.*863T>C
NM_001369413.1:c.*863T>C (ERCC1) NP_001356342.1:n.*863T>C
NM_001369414.1:c.*863T>C (ERCC1) NP_001356343.1:n.*863T>C
NM_001369415.1:c.*863T>C (ERCC1) NP_001356344.1:n.*863T>C
NM_001369416.1:c.*863T>C (ERCC1) NP_001356345.1:n.*863T>C
NM_001369417.1:c.*863T>C (ERCC1) NP_001356346.1:n.*863T>C
NM_001369418.1:c.*863T>C (ERCC1) NP_001356347.1:n.*863T>C
NM_001369419.1:c.*863T>C (ERCC1) NP_001356348.1:n.*863T>C
NM_001983.4:c.*863T>C (ERCC1) MANE Select NP_001974.1:n.*863T>C
NM_012099.2:c.844A>G (POLR1G) NP_036231.1:p.Thr282Ala
NM_001297590.3:c.850A>G (POLR1G) NP_001284519.1:p.Thr284Ala
NM_012099.3:c.844A>G (POLR1G) MANE Select NP_036231.1:p.Thr282Ala
Search 100 bp 5'
Search 100 bp 3'