Canonical Allele Identifier: CA491478362

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2189061
• ClinVar RCV Id: RCV002607074 ; RCV004070506
• dbSNP Id: rs1443033286
• gnomAD v2: 15-73615383-T-G
• gnomAD v3: 15-73323042-T-G
• gnomAD v4: 15-73323042-T-G
• MyVariant Identifiers: chr15:g.73615383T>G (hg19) ; chr15:g.73323042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323042T>G , CM000677.2:g.73323042T>G	GRCh38
NC_000015.9:g.73615383T>G , CM000677.1:g.73615383T>G	GRCh37
NC_000015.8:g.71402436T>G	NCBI36
NG_009063.1:g.51223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3051A>C MANE Select	ENSP00000261917.3:p.Val1017=
ENST00000261917.3:c.3051A>C	ENSP00000261917.3:p.Val1017=
NM_005477.2:c.3051A>C	NP_005468.1:p.Val1017=
XM_011521148.1:c.1833A>C	XP_011519450.1:p.Val611=
XM_011521148.2:c.1833A>C	XP_011519450.1:p.Val611=
NM_005477.3:c.3051A>C MANE Select	NP_005468.1:p.Val1017=