Canonical Allele Identifier: CA7648851

Gene: HCN4

Linked Data

• ClinVar Variation Id: 404129
• ClinVar RCV Id: RCV000475198 ; RCV000591412 ; RCV000852463 ; RCV002323673 ; RCV004526676
• dbSNP Id: rs760392343
• ExAC: 15:73615130 G / A
• gnomAD v2: 15-73615130-G-A
• gnomAD v3: 15-73322789-G-A
• gnomAD v4: 15-73322789-G-A
• MyVariant Identifiers: chr15:g.73615130G>A (hg19) ; chr15:g.73322789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322789G>A , CM000677.2:g.73322789G>A	GRCh38
NC_000015.9:g.73615130G>A , CM000677.1:g.73615130G>A	GRCh37
NC_000015.8:g.71402183G>A	NCBI36
NG_009063.1:g.51476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3304C>T MANE Select	ENSP00000261917.3:p.Arg1102Cys
ENST00000261917.3:c.3304C>T	ENSP00000261917.3:p.Arg1102Cys
NM_005477.2:c.3304C>T	NP_005468.1:p.Arg1102Cys
XM_011521148.1:c.2086C>T	XP_011519450.1:p.Arg696Cys
XM_011521148.2:c.2086C>T	XP_011519450.1:p.Arg696Cys
NM_005477.3:c.3304C>T MANE Select	NP_005468.1:p.Arg1102Cys