Canonical Allele Identifier: CA10635415

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300048
• ClinVar RCV Id: RCV000307447 ; RCV000345920 ; RCV000394239 ; RCV000667349 ; RCV003669128
• dbSNP Id: rs886047034
• gnomAD v4: 10-49470480-G-C
• MyVariant Identifiers: chr10:g.50678526G>C (hg19) ; chr10:g.49470480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470480G>C , CM000672.2:g.49470480G>C	GRCh38
NC_000010.10:g.50678526G>C , CM000672.1:g.50678526G>C	GRCh37
NC_000010.9:g.50348532G>C	NCBI36
NG_009442.1:g.73622C>G , LRG_465:g.73622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3480C>G MANE Select	ENSP00000348089.5:p.Pro1160=
ENST00000679552.1:n.551C>G
ENST00000679871.1:n.626C>G
ENST00000679974.1:n.529C>G
ENST00000681632.1:n.4883C>G
ENST00000681659.1:c.3321C>G	ENSP00000505631.1:p.Pro1107=
ENST00000355832.9:c.3480C>G	ENSP00000348089.5:p.Pro1160=
ENST00000623073.3:c.*1776C>G	ENSP00000485650.1:n.*1776C>G
ENST00000623115.3:c.1590C>G	ENSP00000485321.1:p.Pro530=
ENST00000624341.3:c.1312C>G
NM_000124.3:c.3480C>G	NP_000115.1:p.Pro1160=
XR_945953.1:n.243-1085G>C
NM_001346440.1:c.3480C>G	NP_001333369.1:p.Pro1160=
NM_000124.4:c.3480C>G MANE Select	NP_000115.1:p.Pro1160=
NM_001346440.2:c.3480C>G	NP_001333369.1:p.Pro1160=