Canonical Allele Identifier: CA7648839

Gene: HCN4

Linked Data

• ClinVar Variation Id: 470667
• ClinVar RCV Id: RCV000550020 ; RCV000995388 ; RCV002456186 ; RCV002476179
• dbSNP Id: rs748279911
• ExAC: 15:73615055 C / T
• gnomAD v2: 15-73615055-C-T
• gnomAD v3: 15-73322714-C-T
• gnomAD v4: 15-73322714-C-T
• MyVariant Identifiers: chr15:g.73615055C>T (hg19) ; chr15:g.73322714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322714C>T , CM000677.2:g.73322714C>T	GRCh38
NC_000015.9:g.73615055C>T , CM000677.1:g.73615055C>T	GRCh37
NC_000015.8:g.71402108C>T	NCBI36
NG_009063.1:g.51551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3379G>A MANE Select	ENSP00000261917.3:p.Gly1127Arg
ENST00000261917.3:c.3379G>A	ENSP00000261917.3:p.Gly1127Arg
NM_005477.2:c.3379G>A	NP_005468.1:p.Gly1127Arg
XM_011521148.1:c.2161G>A	XP_011519450.1:p.Gly721Arg
XM_011521148.2:c.2161G>A	XP_011519450.1:p.Gly721Arg
NM_005477.3:c.3379G>A MANE Select	NP_005468.1:p.Gly1127Arg