Canonical Allele Identifier: CA2660675

Gene: CP

Linked Data

• ClinVar Variation Id: 343753
• ClinVar RCV Id: RCV000364282 ; RCV000514945 ; RCV003912452
• dbSNP Id: rs529607771
• ExAC: 3:148897393 C / T
• gnomAD v2: 3-148897393-C-T
• gnomAD v3: 3-149179606-C-T
• gnomAD v4: 3-149179606-C-T
• MyVariant Identifiers: chr3:g.148897393C>T (hg19) ; chr3:g.149179606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149179606C>T , CM000665.2:g.149179606C>T	GRCh38
NC_000003.11:g.148897393C>T , CM000665.1:g.148897393C>T	GRCh37
NC_000003.10:g.150380083C>T	NCBI36
NG_011800.1:g.47440G>A
NG_011800.2:g.47440G>A
NG_011800.3:g.47440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2611G>A MANE Select	ENSP00000264613.6:p.Asp871Asn
ENST00000264613.10:c.2611G>A	ENSP00000264613.6:p.Asp871Asn
ENST00000460674.5:n.528G>A
ENST00000463556.5:n.133G>A
ENST00000479771.5:c.16G>A	ENSP00000420367.1:p.Asp6Asn
ENST00000481169.5:c.2398G>A	ENSP00000418773.1:p.Asp800Asn
ENST00000490639.5:n.2643G>A
ENST00000494544.1:c.1960G>A	ENSP00000420545.1:p.Asp654Asn
NM_000096.3:c.2611G>A	NP_000087.1:p.Asp871Asn
NR_046371.1:n.2651G>A
XM_006713499.2:c.2611G>A	XP_006713562.1:p.Asp871Asn
XM_006713500.2:c.2611G>A	XP_006713563.1:p.Asp871Asn
XM_006713501.2:c.2611G>A	XP_006713564.1:p.Asp871Asn
XM_006713502.2:c.2611G>A	XP_006713565.1:p.Asp871Asn
XM_011512435.1:c.2611G>A	XP_011510737.1:p.Asp871Asn
XR_427361.2:n.2869G>A
XM_006713499.3:c.2611G>A	XP_006713562.1:p.Asp871Asn
XM_006713500.4:c.2611G>A	XP_006713563.1:p.Asp871Asn
XM_006713501.3:c.2611G>A	XP_006713564.1:p.Asp871Asn
XM_011512435.2:c.2611G>A	XP_011510737.1:p.Asp871Asn
XM_017005734.2:c.2611G>A	XP_016861223.1:p.Asp871Asn
XM_017005735.2:c.2611G>A	XP_016861224.1:p.Asp871Asn
XR_427361.3:n.2827G>A
NM_000096.4:c.2611G>A MANE Select	NP_000087.2:p.Asp871Asn
NR_046371.2:n.2435G>A