Canonical Allele Identifier: CA8402295

Gene: COX10

Linked Data

• ClinVar Variation Id: 449007
• ClinVar RCV Id: RCV002476049
• dbSNP Id: rs202207627
• ExAC: 17:13980185 C / T
• gnomAD v2: 17-13980185-C-T
• gnomAD v3: 17-14076868-C-T
• gnomAD v4: 17-14076868-C-T
• MyVariant Identifiers: chr17:g.13980185C>T (hg19) ; chr17:g.14076868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076868C>T , CM000679.2:g.14076868C>T	GRCh38
NC_000017.10:g.13980185C>T , CM000679.1:g.13980185C>T	GRCh37
NC_000017.9:g.13920910C>T	NCBI36
NG_008034.1:g.12467C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.311C>T MANE Select	ENSP00000261643.3:p.Pro104Leu
ENST00000664217.1:c.311C>T	ENSP00000499396.1:p.Pro104Leu
ENST00000670279.1:c.311C>T	ENSP00000499450.1:p.Pro104Leu
ENST00000261643.7:c.311C>T	ENSP00000261643.3:p.Pro104Leu
ENST00000429152.6:c.311C>T	ENSP00000397750.2:p.Pro104Leu
ENST00000580561.1:c.177+2412C>T	ENSP00000462190.1:n.177+2412C>T
ENST00000581931.5:c.311C>T	ENSP00000462512.1:p.Pro104Leu
NM_001303.3:c.311C>T	NP_001294.2:p.Pro104Leu
XM_005256458.1:c.311C>T	XP_005256515.1:p.Pro104Leu
XM_011523657.1:c.311C>T	XP_011521959.1:p.Pro104Leu
XM_011523658.1:c.-141C>T	XP_011521960.1:n.-141C>T
XR_933974.1:n.414C>T
XR_933975.1:n.414C>T
NM_001303.4:c.311C>T MANE Select	NP_001294.2:p.Pro104Leu