Canonical Allele Identifier: CA7648848

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1730087
• ClinVar RCV Id: RCV002326315
• dbSNP Id: rs771606277
• ExAC: 15:73615124 C / T
• gnomAD v2: 15-73615124-C-T
• gnomAD v4: 15-73322783-C-T
• MyVariant Identifiers: chr15:g.73615124C>T (hg19) ; chr15:g.73322783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322783C>T , CM000677.2:g.73322783C>T	GRCh38
NC_000015.9:g.73615124C>T , CM000677.1:g.73615124C>T	GRCh37
NC_000015.8:g.71402177C>T	NCBI36
NG_009063.1:g.51482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3310G>A MANE Select	ENSP00000261917.3:p.Ala1104Thr
ENST00000261917.3:c.3310G>A	ENSP00000261917.3:p.Ala1104Thr
NM_005477.2:c.3310G>A	NP_005468.1:p.Ala1104Thr
XM_011521148.1:c.2092G>A	XP_011519450.1:p.Ala698Thr
XM_011521148.2:c.2092G>A	XP_011519450.1:p.Ala698Thr
NM_005477.3:c.3310G>A MANE Select	NP_005468.1:p.Ala1104Thr