Canonical Allele Identifier: CA85535576

Gene: CP

Linked Data

• ClinVar Variation Id: 2849059
• ClinVar RCV Id: RCV003632073
• dbSNP Id: rs1033104751
• gnomAD v3: 3-149186744-G-C
• gnomAD v4: 3-149186744-G-C
• MyVariant Identifiers: chr3:g.148904531G>C (hg19) ; chr3:g.149186744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186744G>C , CM000665.2:g.149186744G>C	GRCh38
NC_000003.11:g.148904531G>C , CM000665.1:g.148904531G>C	GRCh37
NC_000003.10:g.150387221G>C	NCBI36
NG_011800.1:g.40302C>G
NG_011800.2:g.40302C>G
NG_011800.3:g.40302C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264613.11:c.1865-12C>G MANE Select	ENSP00000264613.6:n.1865-12C>G
ENST00000264613.10:c.1865-12C>G	ENSP00000264613.6:n.1865-12C>G
ENST00000462336.5:n.239-12C>G
ENST00000481169.5:c.1865-1298C>G	ENSP00000418773.1:n.1865-1298C>G
ENST00000489736.5:n.1090-12C>G
ENST00000490639.5:n.1897-12C>G
ENST00000494544.1:c.1214-12C>G	ENSP00000420545.1:n.1214-12C>G
ENST00000497902.5:n.46-12C>G
NM_000096.3:c.1865-12C>G	NP_000087.1:n.1865-12C>G
NR_046371.1:n.2118-1298C>G
XM_006713499.2:c.1865-12C>G	XP_006713562.1:n.1865-12C>G
XM_006713500.2:c.1865-12C>G	XP_006713563.1:n.1865-12C>G
XM_006713501.2:c.1865-12C>G	XP_006713564.1:n.1865-12C>G
XM_006713502.2:c.1865-12C>G	XP_006713565.1:n.1865-12C>G
XM_011512435.1:c.1865-12C>G	XP_011510737.1:n.1865-12C>G
XR_427361.2:n.2123-12C>G
XM_006713499.3:c.1865-12C>G	XP_006713562.1:n.1865-12C>G
XM_006713500.4:c.1865-12C>G	XP_006713563.1:n.1865-12C>G
XM_006713501.3:c.1865-12C>G	XP_006713564.1:n.1865-12C>G
XM_011512435.2:c.1865-12C>G	XP_011510737.1:n.1865-12C>G
XM_017005734.2:c.1865-12C>G	XP_016861223.1:n.1865-12C>G
XM_017005735.2:c.1865-12C>G	XP_016861224.1:n.1865-12C>G
XR_427361.3:n.2081-12C>G
NM_000096.4:c.1865-12C>G MANE Select	NP_000087.2:n.1865-12C>G
NR_046371.2:n.1902-1298C>G