Canonical Allele Identifier: CA7649370

Gene: HCN4

Linked Data

• ClinVar Variation Id: 412784
• ClinVar RCV Id: RCV000839242 ; RCV001087693 ; RCV001117429 ; RCV002429563
• dbSNP Id: rs151004999
• ExAC: 15:73635845 C / T
• gnomAD v2: 15-73635845-C-T
• gnomAD v3: 15-73343504-C-T
• gnomAD v4: 15-73343504-C-T
• COSMIC: COSM964682
• MyVariant Identifiers: chr15:g.73635845C>T (hg19) ; chr15:g.73343504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343504C>T , CM000677.2:g.73343504C>T	GRCh38
NC_000015.9:g.73635845C>T , CM000677.1:g.73635845C>T	GRCh37
NC_000015.8:g.71422898C>T	NCBI36
NG_009063.1:g.30761G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1090G>A MANE Select	ENSP00000261917.3:p.Asp364Asn
ENST00000261917.3:c.1090G>A	ENSP00000261917.3:p.Asp364Asn
NM_005477.2:c.1090G>A	NP_005468.1:p.Asp364Asn
NM_005477.3:c.1090G>A MANE Select	NP_005468.1:p.Asp364Asn