Canonical Allele Identifier: CA619410585

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1732004
• ClinVar RCV Id: RCV002459090
• dbSNP Id: rs1194760807
• gnomAD v2: 15-73614929-CAAACAA-C
• gnomAD v4: 15-73322588-CAAACAA-C
• MyVariant Identifiers: chr15:g.73614930_73614935del (hg19) ; chr15:g.73322589_73322594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322590_73322595del , CM000677.2:g.73322590_73322595del	GRCh38
NC_000015.9:g.73614931_73614936del , CM000677.1:g.73614931_73614936del	GRCh37
NC_000015.8:g.71401984_71401989del	NCBI36
NG_009063.1:g.51671_51676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3499_3504del MANE Select	ENSP00000261917.3:p.Leu1167_Phe1168del
ENST00000261917.3:c.3499_3504del	ENSP00000261917.3:p.Leu1167_Phe1168del
NM_005477.2:c.3499_3504del	NP_005468.1:p.Leu1167_Phe1168del
XM_011521148.1:c.2281_2286del	XP_011519450.1:p.Leu761_Phe762del
XM_011521148.2:c.2281_2286del	XP_011519450.1:p.Leu761_Phe762del
NM_005477.3:c.3499_3504del MANE Select	NP_005468.1:p.Leu1167_Phe1168del