Canonical Allele Identifier: CA7649297

Gene: HCN4

Linked Data

• ClinVar Variation Id: 947654
• ClinVar RCV Id: RCV001218769 ; RCV002393520
• dbSNP Id: rs760413254
• ExAC: 15:73622101 G / A
• gnomAD v2: 15-73622101-G-A
• gnomAD v3: 15-73329760-G-A
• gnomAD v4: 15-73329760-G-A
• MyVariant Identifiers: chr15:g.73622101G>A (hg19) ; chr15:g.73329760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73329760G>A , CM000677.2:g.73329760G>A	GRCh38
NC_000015.9:g.73622101G>A , CM000677.1:g.73622101G>A	GRCh37
NC_000015.8:g.71409154G>A	NCBI36
NG_009063.1:g.44505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.1403C>T MANE Select	ENSP00000261917.3:p.Ala468Val
ENST00000261917.3:c.1403C>T	ENSP00000261917.3:p.Ala468Val
NM_005477.2:c.1403C>T	NP_005468.1:p.Ala468Val
XM_011521148.1:c.185C>T	XP_011519450.1:p.Ala62Val
XM_011521148.2:c.185C>T	XP_011519450.1:p.Ala62Val
NM_005477.3:c.1403C>T MANE Select	NP_005468.1:p.Ala468Val