Canonical Allele Identifier: CA10608262

Gene: PKLR HCN3

Linked Data

• ClinVar Variation Id: 292793
• ClinVar RCV Id: RCV000365684
• dbSNP Id: rs41264939
• gnomAD v2: 1-155259470-A-C
• gnomAD v3: 1-155289679-A-C
• gnomAD v4: 1-155289679-A-C
• MyVariant Identifiers: chr1:g.155259470A>C (hg19) ; chr1:g.155289679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155289679A>C , CM000663.2:g.155289679A>C	GRCh38
NC_000001.10:g.155259470A>C , CM000663.1:g.155259470A>C	GRCh37
NC_000001.9:g.153526094A>C	NCBI36
NG_011677.1:g.16756T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*893T>G (PKLR) MANE Select	ENSP00000339933.4:n.*893T>G
ENST00000368358.4:c.*1216A>C (HCN3) MANE Select	ENSP00000357342.3:n.*1216A>C
ENST00000368358.3:c.*1216A>C (HCN3)	ENSP00000357342.3:n.*1216A>C
ENST00000496230.5:n.3077A>C (HCN3)
NM_000298.5:c.*893T>G (PKLR)	NP_000289.1:n.*893T>G
NM_020897.2:c.*1216A>C (HCN3)	NP_065948.1:n.*1216A>C
NM_181871.3:c.*893T>G (PKLR)	NP_870986.1:n.*893T>G
XM_011509816.1:c.*1216A>C (HCN3)	XP_011508118.1:n.*1216A>C
XM_011509817.1:c.*1216A>C (HCN3)	XP_011508119.1:n.*1216A>C
XM_011509818.1:c.*1216A>C (HCN3)	XP_011508120.1:n.*1216A>C
XR_921903.1:n.3506A>C (HCN3)
XR_921904.1:n.3322A>C (HCN3)
XR_921905.1:n.3022A>C (HCN3)
NM_000298.6:c.*893T>G (PKLR) MANE Select	NP_000289.1:n.*893T>G
XM_011509816.3:c.*1216A>C (HCN3)	XP_011508118.1:n.*1216A>C
XM_011509817.2:c.*1216A>C (HCN3)	XP_011508119.1:n.*1216A>C
XM_011509818.2:c.*1216A>C (HCN3)	XP_011508120.1:n.*1216A>C
XM_017001918.1:c.*1216A>C (HCN3)	XP_016857407.1:n.*1216A>C
XR_001737344.1:n.3590A>C (HCN3)
XR_921903.2:n.3506A>C (HCN3)
XR_921904.2:n.3322A>C (HCN3)
XR_921905.2:n.3022A>C (HCN3)
NM_020897.3:c.*1216A>C (HCN3) MANE Select	NP_065948.1:n.*1216A>C
NM_181871.4:c.*893T>G (PKLR)	NP_870986.1:n.*893T>G
NR_073074.2:n.3536A>C (HCN3)