Canonical Allele Identifier: CA16607866

Gene: HCN4

Linked Data

• ClinVar Variation Id: 392319
• ClinVar RCV Id: RCV000429781 ; RCV002436357 ; RCV002481341 ; RCV001221790
• dbSNP Id: rs890395300
• gnomAD v3: 15-73323062-A-G
• gnomAD v4: 15-73323062-A-G
• MyVariant Identifiers: chr15:g.73615403A>G (hg19) ; chr15:g.73323062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323062A>G , CM000677.2:g.73323062A>G	GRCh38
NC_000015.9:g.73615403A>G , CM000677.1:g.73615403A>G	GRCh37
NC_000015.8:g.71402456A>G	NCBI36
NG_009063.1:g.51203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3031T>C MANE Select	ENSP00000261917.3:p.Ser1011Pro
ENST00000261917.3:c.3031T>C	ENSP00000261917.3:p.Ser1011Pro
NM_005477.2:c.3031T>C	NP_005468.1:p.Ser1011Pro
XM_011521148.1:c.1813T>C	XP_011519450.1:p.Ser605Pro
XM_011521148.2:c.1813T>C	XP_011519450.1:p.Ser605Pro
NM_005477.3:c.3031T>C MANE Select	NP_005468.1:p.Ser1011Pro