Canonical Allele Identifier: CA354929149

Gene: CP

Linked Data

• dbSNP Id: rs1725518340
• gnomAD v4: 3-149177868-T-C
• MyVariant Identifiers: chr3:g.148895655T>C (hg19) ; chr3:g.149177868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149177868T>C , CM000665.2:g.149177868T>C	GRCh38
NC_000003.11:g.148895655T>C , CM000665.1:g.148895655T>C	GRCh37
NC_000003.10:g.150378345T>C	NCBI36
NG_011800.1:g.49178A>G
NG_011800.2:g.49178A>G
NG_011800.3:g.49178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2990A>G MANE Select	ENSP00000264613.6:p.His997Arg
ENST00000264613.10:c.2990A>G	ENSP00000264613.6:p.His997Arg
ENST00000460674.5:n.907A>G
ENST00000463556.5:n.512A>G
ENST00000473296.1:n.40A>G
ENST00000479771.5:c.395A>G	ENSP00000420367.1:p.His132Arg
ENST00000481169.5:c.2777A>G	ENSP00000418773.1:p.His926Arg
ENST00000490639.5:n.3022A>G
ENST00000494544.1:c.2339A>G	ENSP00000420545.1:p.His780Arg
NM_000096.3:c.2990A>G	NP_000087.1:p.His997Arg
NR_046371.1:n.3030A>G
XM_006713499.2:c.2990A>G	XP_006713562.1:p.His997Arg
XM_006713500.2:c.2990A>G	XP_006713563.1:p.His997Arg
XM_006713501.2:c.2990A>G	XP_006713564.1:p.His997Arg
XM_011512435.1:c.2990A>G	XP_011510737.1:p.His997Arg
XR_427361.2:n.3248A>G
XM_006713499.3:c.2990A>G	XP_006713562.1:p.His997Arg
XM_006713500.4:c.2990A>G	XP_006713563.1:p.His997Arg
XM_006713501.3:c.2990A>G	XP_006713564.1:p.His997Arg
XM_011512435.2:c.2990A>G	XP_011510737.1:p.His997Arg
XM_017005734.2:c.2990A>G	XP_016861223.1:p.His997Arg
XM_017005735.2:c.2990A>G	XP_016861224.1:p.His997Arg
XR_427361.3:n.3206A>G
NM_000096.4:c.2990A>G MANE Select	NP_000087.2:p.His997Arg
NR_046371.2:n.2814A>G