Canonical Allele Identifier: CA7649125

Gene: HCN4

Linked Data

• ClinVar Variation Id: 518702
• ClinVar RCV Id: RCV000621119 ; RCV000647274
• dbSNP Id: rs201652877
• ExAC: 15:73616458 G / A
• gnomAD v2: 15-73616458-G-A
• gnomAD v3: 15-73324117-G-A
• gnomAD v4: 15-73324117-G-A
• MyVariant Identifiers: chr15:g.73616458G>A (hg19) ; chr15:g.73324117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73324117G>A , CM000677.2:g.73324117G>A	GRCh38
NC_000015.9:g.73616458G>A , CM000677.1:g.73616458G>A	GRCh37
NC_000015.8:g.71403511G>A	NCBI36
NG_009063.1:g.50148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2115C>T MANE Select	ENSP00000261917.3:p.Thr705=
ENST00000261917.3:c.2115C>T	ENSP00000261917.3:p.Thr705=
NM_005477.2:c.2115C>T	NP_005468.1:p.Thr705=
XM_011521148.1:c.897C>T	XP_011519450.1:p.Thr299=
XM_011521148.2:c.897C>T	XP_011519450.1:p.Thr299=
NM_005477.3:c.2115C>T MANE Select	NP_005468.1:p.Thr705=