Canonical Allele Identifier: CA7649357

Gene: HCN4

Linked Data

• ClinVar Variation Id: 470644
• ClinVar RCV Id: RCV000555420 ; RCV002350325
• dbSNP Id: rs142643511
• ExAC: 15:73635744 A / G
• gnomAD v2: 15-73635744-A-G
• gnomAD v3: 15-73343403-A-G
• gnomAD v4: 15-73343403-A-G
• MyVariant Identifiers: chr15:g.73635744A>G (hg19) ; chr15:g.73343403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343403A>G , CM000677.2:g.73343403A>G	GRCh38
NC_000015.9:g.73635744A>G , CM000677.1:g.73635744A>G	GRCh37
NC_000015.8:g.71422797A>G	NCBI36
NG_009063.1:g.30862T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1191T>C MANE Select	ENSP00000261917.3:p.Tyr397=
ENST00000261917.3:c.1191T>C	ENSP00000261917.3:p.Tyr397=
NM_005477.2:c.1191T>C	NP_005468.1:p.Tyr397=
NM_005477.3:c.1191T>C MANE Select	NP_005468.1:p.Tyr397=