Canonical Allele Identifier: CA247667

Gene: HCN4

Linked Data

• ClinVar Variation Id: 198829
• ClinVar RCV Id: RCV000180283 ; RCV001366014 ; RCV002321710
• dbSNP Id: rs765155640
• ExAC: 15:73615237 G / T
• gnomAD v2: 15-73615237-G-T
• gnomAD v3: 15-73322896-G-T
• gnomAD v4: 15-73322896-G-T
• MyVariant Identifiers: chr15:g.73615237G>T (hg19) ; chr15:g.73322896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322896G>T , CM000677.2:g.73322896G>T	GRCh38
NC_000015.9:g.73615237G>T , CM000677.1:g.73615237G>T	GRCh37
NC_000015.8:g.71402290G>T	NCBI36
NG_009063.1:g.51369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3197C>A MANE Select	ENSP00000261917.3:p.Pro1066His
ENST00000261917.3:c.3197C>A	ENSP00000261917.3:p.Pro1066His
NM_005477.2:c.3197C>A	NP_005468.1:p.Pro1066His
XM_011521148.1:c.1979C>A	XP_011519450.1:p.Pro660His
XM_011521148.2:c.1979C>A	XP_011519450.1:p.Pro660His
NM_005477.3:c.3197C>A MANE Select	NP_005468.1:p.Pro1066His