Canonical Allele Identifier: CA16603675

Gene: COX20

Linked Data

• ClinVar Variation Id: 383480
• ClinVar RCV Id: RCV000418319
• dbSNP Id: rs1057521643
• MyVariant Identifiers: chr1:g.244998978C>G (hg19) ; chr1:g.244835676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244835676C>G , CM000663.2:g.244835676C>G	GRCh38
NC_000001.10:g.244998978C>G , CM000663.1:g.244998978C>G	GRCh37
NC_000001.9:g.243065601C>G	NCBI36
NG_042825.1:g.5371C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411948.7:c.-39C>G MANE Select	ENSP00000406327.2:n.-39C>G
ENST00000366528.3:c.-39C>G	ENSP00000355486.3:n.-39C>G
ENST00000391839.6:n.21C>G
ENST00000411948.6:c.-39C>G	ENSP00000406327.2:n.-39C>G
ENST00000498262.1:n.18C>G
NM_001312871.1:c.-39C>G	NP_001299800.1:n.-39C>G
NM_001312872.1:c.-39C>G	NP_001299801.1:n.-39C>G
NM_001312873.1:c.-39C>G	NP_001299802.1:n.-39C>G
NM_001312874.1:c.-39C>G	NP_001299803.1:n.-39C>G
NM_198076.4:c.-39C>G	NP_932342.1:n.-39C>G
NM_198076.5:c.-39C>G	NP_932342.1:n.-39C>G
NR_132419.1:n.201C>G
NR_132420.1:n.201C>G
NR_132421.1:n.201C>G
NM_198076.6:c.-39C>G MANE Select	NP_932342.1:n.-39C>G