Canonical Allele Identifier: CA7648905

Gene: HCN4

Linked Data

• ClinVar Variation Id: 291134
• ClinVar RCV Id: RCV000726615 ; RCV000852706 ; RCV001086425 ; RCV002436127
• dbSNP Id: rs201418838
• ExAC: 15:73615424 G / A
• gnomAD v2: 15-73615424-G-A
• gnomAD v3: 15-73323083-G-A
• gnomAD v4: 15-73323083-G-A
• MyVariant Identifiers: chr15:g.73615424G>A (hg19) ; chr15:g.73323083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323083G>A , CM000677.2:g.73323083G>A	GRCh38
NC_000015.9:g.73615424G>A , CM000677.1:g.73615424G>A	GRCh37
NC_000015.8:g.71402477G>A	NCBI36
NG_009063.1:g.51182C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3010C>T MANE Select	ENSP00000261917.3:p.Pro1004Ser
ENST00000261917.3:c.3010C>T	ENSP00000261917.3:p.Pro1004Ser
NM_005477.2:c.3010C>T	NP_005468.1:p.Pro1004Ser
XM_011521148.1:c.1792C>T	XP_011519450.1:p.Pro598Ser
XM_011521148.2:c.1792C>T	XP_011519450.1:p.Pro598Ser
NM_005477.3:c.3010C>T MANE Select	NP_005468.1:p.Pro1004Ser