Canonical Allele Identifier: CA301968

Gene: HCN4

Linked Data

• ClinVar Variation Id: 190785
• ClinVar RCV Id: RCV000170944 ; RCV000527488 ; RCV000767026 ; RCV002485072 ; RCV002453582
• dbSNP Id: rs774674047
• ExAC: 15:73614933 CAAAG / C
• gnomAD v2: 15-73614933-CAAAG-C
• gnomAD v3: 15-73322592-CAAAG-C
• gnomAD v4: 15-73322592-CAAAG-C
• MyVariant Identifiers: chr15:g.73614934_73614937del (hg19) ; chr15:g.73322593_73322596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322594_73322597del , CM000677.2:g.73322594_73322597del	GRCh38
NC_000015.9:g.73614935_73614938del , CM000677.1:g.73614935_73614938del	GRCh37
NC_000015.8:g.71401988_71401991del	NCBI36
NG_009063.1:g.51669_51672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3497_3500del MANE Select	ENSP00000261917.3:p.Ser1166CysfsTer14
ENST00000261917.3:c.3497_3500del	ENSP00000261917.3:p.Ser1166CysfsTer14
NM_005477.2:c.3497_3500del	NP_005468.1:p.Ser1166CysfsTer14
XM_011521148.1:c.2279_2282del	XP_011519450.1:p.Ser760CysfsTer14
XM_011521148.2:c.2279_2282del	XP_011519450.1:p.Ser760CysfsTer14
NM_005477.3:c.3497_3500del MANE Select	NP_005468.1:p.Ser1166CysfsTer14