Canonical Allele Identifier: CA2660654

Gene: CP

Linked Data

• ClinVar Variation Id: 343752
• ClinVar RCV Id: RCV000309651
• dbSNP Id: rs189155564
• ExAC: 3:148896432 A / G
• gnomAD v2: 3-148896432-A-G
• gnomAD v3: 3-149178645-A-G
• gnomAD v4: 3-149178645-A-G
• MyVariant Identifiers: chr3:g.148896432A>G (hg19) ; chr3:g.149178645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149178645A>G , CM000665.2:g.149178645A>G	GRCh38
NC_000003.11:g.148896432A>G , CM000665.1:g.148896432A>G	GRCh37
NC_000003.10:g.150379122A>G	NCBI36
NG_011800.1:g.48401T>C
NG_011800.2:g.48401T>C
NG_011800.3:g.48401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2662-14T>C MANE Select	ENSP00000264613.6:n.2662-14T>C
ENST00000264613.10:c.2662-14T>C	ENSP00000264613.6:n.2662-14T>C
ENST00000460674.5:n.579-14T>C
ENST00000463556.5:n.184-14T>C
ENST00000479771.5:c.67-14T>C	ENSP00000420367.1:n.67-14T>C
ENST00000481169.5:c.2449-14T>C	ENSP00000418773.1:n.2449-14T>C
ENST00000490639.5:n.2694-14T>C
ENST00000494544.1:c.2011-14T>C	ENSP00000420545.1:n.2011-14T>C
NM_000096.3:c.2662-14T>C	NP_000087.1:n.2662-14T>C
NR_046371.1:n.2702-14T>C
XM_006713499.2:c.2662-14T>C	XP_006713562.1:n.2662-14T>C
XM_006713500.2:c.2662-14T>C	XP_006713563.1:n.2662-14T>C
XM_006713501.2:c.2662-14T>C	XP_006713564.1:n.2662-14T>C
XM_011512435.1:c.2662-14T>C	XP_011510737.1:n.2662-14T>C
XR_427361.2:n.2920-14T>C
XM_006713499.3:c.2662-14T>C	XP_006713562.1:n.2662-14T>C
XM_006713500.4:c.2662-14T>C	XP_006713563.1:n.2662-14T>C
XM_006713501.3:c.2662-14T>C	XP_006713564.1:n.2662-14T>C
XM_011512435.2:c.2662-14T>C	XP_011510737.1:n.2662-14T>C
XM_017005734.2:c.2662-14T>C	XP_016861223.1:n.2662-14T>C
XM_017005735.2:c.2662-14T>C	XP_016861224.1:n.2662-14T>C
XR_427361.3:n.2878-14T>C
NM_000096.4:c.2662-14T>C MANE Select	NP_000087.2:n.2662-14T>C
NR_046371.2:n.2486-14T>C