Canonical Allele Identifier: CA7648870

Gene: HCN4

Linked Data

• ClinVar Variation Id: 840097
• ClinVar RCV Id: RCV001042004 ; RCV001117323 ; RCV001699502 ; RCV002320252
• dbSNP Id: rs770658894
• ExAC: 15:73615229 G / A
• gnomAD v2: 15-73615229-G-A
• gnomAD v3: 15-73322888-G-A
• gnomAD v4: 15-73322888-G-A
• MyVariant Identifiers: chr15:g.73615229G>A (hg19) ; chr15:g.73322888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322888G>A , CM000677.2:g.73322888G>A	GRCh38
NC_000015.9:g.73615229G>A , CM000677.1:g.73615229G>A	GRCh37
NC_000015.8:g.71402282G>A	NCBI36
NG_009063.1:g.51377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3205C>T MANE Select	ENSP00000261917.3:p.Arg1069Trp
ENST00000261917.3:c.3205C>T	ENSP00000261917.3:p.Arg1069Trp
NM_005477.2:c.3205C>T	NP_005468.1:p.Arg1069Trp
XM_011521148.1:c.1987C>T	XP_011519450.1:p.Arg663Trp
XM_011521148.2:c.1987C>T	XP_011519450.1:p.Arg663Trp
NM_005477.3:c.3205C>T MANE Select	NP_005468.1:p.Arg1069Trp