Canonical Allele Identifier: CA201306
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 194696
ClinVar RCV Id: RCV000175124 RCV000292842 RCV000331418 RCV000385102 RCV001519684
dbSNP Id: rs2274097
ExAC: 10:50679081 G / A
gnomAD v2: 10-50679081-G-A
gnomAD v3: 10-49471035-G-A
gnomAD v4: 10-49471035-G-A
MyVariant Identifiers: chr10:g.50679081G>A (hg19) chr10:g.49471035G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471035G>A , CM000672.2:g.49471035G>A GRCh38
NC_000010.10:g.50679081G>A , CM000672.1:g.50679081G>A GRCh37
NC_000010.9:g.50349087G>A NCBI36
NG_009442.1:g.73067C>T , LRG_465:g.73067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3010C>T MANE Select ENSP00000348089.5:p.Leu1004=
ENST00000679552.1:n.142-146C>T
ENST00000679871.1:n.156C>T
ENST00000679974.1:n.120-146C>T
ENST00000681632.1:n.4413C>T
ENST00000681659.1:c.2851C>T ENSP00000505631.1:p.Leu951=
ENST00000355832.9:c.3010C>T ENSP00000348089.5:p.Leu1004=
ENST00000623073.3:c.*1306C>T ENSP00000485650.1:n.*1306C>T
ENST00000623115.3:c.1120C>T ENSP00000485321.1:p.Leu374=
ENST00000624341.3:c.842C>T
NM_000124.3:c.3010C>T NP_000115.1:p.Leu1004=
XR_945953.1:n.243-530G>A
NM_001346440.1:c.3010C>T NP_001333369.1:p.Leu1004=
NM_000124.4:c.3010C>T MANE Select NP_000115.1:p.Leu1004=
NM_001346440.2:c.3010C>T NP_001333369.1:p.Leu1004=
Search 100 bp 5'
Search 100 bp 3'