Canonical Allele Identifier: CA8402233

Gene: COX10

Linked Data

• ClinVar Variation Id: 377745
• ClinVar RCV Id: RCV000422846 ; RCV002061369 ; RCV002506015
• dbSNP Id: rs748889500
• ExAC: 17:13977644 C / T
• gnomAD v2: 17-13977644-C-T
• gnomAD v3: 17-14074327-C-T
• gnomAD v4: 17-14074327-C-T
• COSMIC: COSM704965
• MyVariant Identifiers: chr17:g.13977644C>T (hg19) ; chr17:g.14074327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14074327C>T , CM000679.2:g.14074327C>T	GRCh38
NC_000017.10:g.13977644C>T , CM000679.1:g.13977644C>T	GRCh37
NC_000017.9:g.13918369C>T	NCBI36
NG_008034.1:g.9926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.48C>T MANE Select	ENSP00000261643.3:p.Cys16=
ENST00000664217.1:c.48C>T	ENSP00000499396.1:p.Cys16=
ENST00000670279.1:c.48C>T	ENSP00000499450.1:p.Cys16=
ENST00000261643.7:c.48C>T	ENSP00000261643.3:p.Cys16=
ENST00000429152.6:c.48C>T	ENSP00000397750.2:p.Cys16=
ENST00000580561.1:c.48C>T	ENSP00000462190.1:p.Cys16=
ENST00000581931.5:c.48C>T	ENSP00000462512.1:p.Cys16=
NM_001303.3:c.48C>T	NP_001294.2:p.Cys16=
XM_005256458.1:c.48C>T	XP_005256515.1:p.Cys16=
XM_011523657.1:c.48C>T	XP_011521959.1:p.Cys16=
XM_011523658.1:c.-404C>T	XP_011521960.1:n.-404C>T
XR_933974.1:n.151C>T
XR_933975.1:n.151C>T
NM_001303.4:c.48C>T MANE Select	NP_001294.2:p.Cys16=