Canonical Allele Identifier: CA199603

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 190174
• ClinVar RCV Id: RCV000170393 ; RCV000287342 ; RCV000340086 ; RCV000404438 ; RCV000726037 ; RCV002515216
• dbSNP Id: rs150935953
• ExAC: 10:50732806 G / A
• gnomAD v2: 10-50732806-G-A
• gnomAD v3: 10-49524760-G-A
• gnomAD v4: 10-49524760-G-A
• MyVariant Identifiers: chr10:g.50732806G>A (hg19) ; chr10:g.49524760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524760G>A , CM000672.2:g.49524760G>A	GRCh38
NC_000010.10:g.50732806G>A , CM000672.1:g.50732806G>A	GRCh37
NC_000010.9:g.50402812G>A	NCBI36
NG_009442.1:g.19342C>T , LRG_465:g.19342C>T
NG_033155.1:g.4522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.670C>T MANE Select	ENSP00000348089.5:p.Leu224Phe
ENST00000447839.7:c.670C>T MANE Plus Clinical	ENSP00000387966.2:p.Leu224Phe
ENST00000679596.1:c.*299C>T	ENSP00000504862.1:n.*299C>T
ENST00000679811.1:n.753C>T
ENST00000680107.1:c.652+3657C>T	ENSP00000505909.1:n.652+3657C>T
ENST00000680233.1:n.763C>T
ENST00000681632.1:n.748C>T
ENST00000681659.1:c.670C>T	ENSP00000505631.1:p.Leu224Phe
ENST00000355832.9:c.670C>T	ENSP00000348089.5:p.Leu224Phe
ENST00000447839.6:c.670C>T	ENSP00000387966.2:p.Leu224Phe
ENST00000515869.1:c.670C>T	ENSP00000423550.1:p.Leu224Phe
NM_000124.3:c.670C>T	NP_000115.1:p.Leu224Phe
NM_001277058.1:c.670C>T	NP_001263987.1:p.Leu224Phe
NM_001277059.1:c.670C>T	NP_001263988.1:p.Leu224Phe
NM_001346440.1:c.670C>T	NP_001333369.1:p.Leu224Phe
NM_000124.4:c.670C>T MANE Select	NP_000115.1:p.Leu224Phe
NM_001277058.2:c.670C>T MANE Plus Clinical	NP_001263987.1:p.Leu224Phe
NM_001277059.2:c.670C>T	NP_001263988.1:p.Leu224Phe
NM_001346440.2:c.670C>T	NP_001333369.1:p.Leu224Phe