Canonical Allele Identifier: CA7648914

Gene: HCN4

Linked Data

• ClinVar Variation Id: 2201458
• ClinVar RCV Id: RCV002629670
• dbSNP Id: rs754083717
• ExAC: 15:73615459 C / A
• gnomAD v2: 15-73615459-C-A
• gnomAD v3: 15-73323118-C-A
• gnomAD v4: 15-73323118-C-A
• MyVariant Identifiers: chr15:g.73615459C>A (hg19) ; chr15:g.73323118C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323118C>A , CM000677.2:g.73323118C>A	GRCh38
NC_000015.9:g.73615459C>A , CM000677.1:g.73615459C>A	GRCh37
NC_000015.8:g.71402512C>A	NCBI36
NG_009063.1:g.51147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.2975G>T MANE Select	ENSP00000261917.3:p.Ser992Ile
ENST00000261917.3:c.2975G>T	ENSP00000261917.3:p.Ser992Ile
NM_005477.2:c.2975G>T	NP_005468.1:p.Ser992Ile
XM_011521148.1:c.1757G>T	XP_011519450.1:p.Ser586Ile
XM_011521148.2:c.1757G>T	XP_011519450.1:p.Ser586Ile
NM_005477.3:c.2975G>T MANE Select	NP_005468.1:p.Ser992Ile