Canonical Allele Identifier: CA301958

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190779
• ClinVar RCV Id: RCV000170938 ; RCV000619663 ; RCV001051690 ; RCV002478538
• dbSNP Id: rs758468167
• ExAC: 15:73635803 G / A
• gnomAD v2: 15-73635803-G-A
• gnomAD v3: 15-73343462-G-A
• gnomAD v4: 15-73343462-G-A
• COSMIC: COSM5849729
• MyVariant Identifiers: chr15:g.73635803G>A (hg19) ; chr15:g.73343462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343462G>A , CM000677.2:g.73343462G>A	GRCh38
NC_000015.9:g.73635803G>A , CM000677.1:g.73635803G>A	GRCh37
NC_000015.8:g.71422856G>A	NCBI36
NG_009063.1:g.30803C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1132C>T MANE Select	ENSP00000261917.3:p.Arg378Cys
ENST00000261917.3:c.1132C>T	ENSP00000261917.3:p.Arg378Cys
NM_005477.2:c.1132C>T	NP_005468.1:p.Arg378Cys
NM_005477.3:c.1132C>T MANE Select	NP_005468.1:p.Arg378Cys