Canonical Allele Identifier: CA7648840

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1226847
• ClinVar RCV Id: RCV001608721 ; RCV002072367
• dbSNP Id: rs758673317
• ExAC: 15:73615056 G / A
• gnomAD v2: 15-73615056-G-A
• gnomAD v3: 15-73322715-G-A
• gnomAD v4: 15-73322715-G-A
• MyVariant Identifiers: chr15:g.73615056G>A (hg19) ; chr15:g.73322715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322715G>A , CM000677.2:g.73322715G>A	GRCh38
NC_000015.9:g.73615056G>A , CM000677.1:g.73615056G>A	GRCh37
NC_000015.8:g.71402109G>A	NCBI36
NG_009063.1:g.51550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3378C>T MANE Select	ENSP00000261917.3:p.Ser1126=
ENST00000261917.3:c.3378C>T	ENSP00000261917.3:p.Ser1126=
NM_005477.2:c.3378C>T	NP_005468.1:p.Ser1126=
XM_011521148.1:c.2160C>T	XP_011519450.1:p.Ser720=
XM_011521148.2:c.2160C>T	XP_011519450.1:p.Ser720=
NM_005477.3:c.3378C>T MANE Select	NP_005468.1:p.Ser1126=