Canonical Allele Identifier: CA376717682

Gene: ERCC6

Linked Data

• dbSNP Id: rs1472247694
• gnomAD v3: 10-49471059-A-C
• gnomAD v4: 10-49471059-A-C
• MyVariant Identifiers: chr10:g.50679105A>C (hg19) ; chr10:g.49471059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471059A>C , CM000672.2:g.49471059A>C	GRCh38
NC_000010.10:g.50679105A>C , CM000672.1:g.50679105A>C	GRCh37
NC_000010.9:g.50349111A>C	NCBI36
NG_009442.1:g.73043T>G , LRG_465:g.73043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2986T>G MANE Select	ENSP00000348089.5:p.Phe996Val
ENST00000679552.1:n.142-170T>G
ENST00000679871.1:n.132T>G
ENST00000679974.1:n.120-170T>G
ENST00000681632.1:n.4389T>G
ENST00000681659.1:c.2827T>G	ENSP00000505631.1:p.Phe943Val
ENST00000355832.9:c.2986T>G	ENSP00000348089.5:p.Phe996Val
ENST00000623073.3:c.*1282T>G	ENSP00000485650.1:n.*1282T>G
ENST00000623115.3:c.1096T>G	ENSP00000485321.1:p.Phe366Val
ENST00000624341.3:c.818T>G
NM_000124.3:c.2986T>G	NP_000115.1:p.Phe996Val
XR_945953.1:n.243-506A>C
NM_001346440.1:c.2986T>G	NP_001333369.1:p.Phe996Val
NM_000124.4:c.2986T>G MANE Select	NP_000115.1:p.Phe996Val
NM_001346440.2:c.2986T>G	NP_001333369.1:p.Phe996Val