Canonical Allele Identifier: CA272662970

Gene: HCN4

Linked Data

• ClinVar Variation Id: 502460
• ClinVar RCV Id: RCV000596045 ; RCV000647248 ; RCV002456314
• dbSNP Id: rs146751122
• gnomAD v2: 15-73614838-A-T
• gnomAD v3: 15-73322497-A-T
• gnomAD v4: 15-73322497-A-T
• MyVariant Identifiers: chr15:g.73614838A>T (hg19) ; chr15:g.73322497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322497A>T , CM000677.2:g.73322497A>T	GRCh38
NC_000015.9:g.73614838A>T , CM000677.1:g.73614838A>T	GRCh37
NC_000015.8:g.71401891A>T	NCBI36
NG_009063.1:g.51768T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3596T>A MANE Select	ENSP00000261917.3:p.Leu1199Gln
ENST00000261917.3:c.3596T>A	ENSP00000261917.3:p.Leu1199Gln
NM_005477.2:c.3596T>A	NP_005468.1:p.Leu1199Gln
XM_011521148.1:c.2378T>A	XP_011519450.1:p.Leu793Gln
XM_011521148.2:c.2378T>A	XP_011519450.1:p.Leu793Gln
NM_005477.3:c.3596T>A MANE Select	NP_005468.1:p.Leu1199Gln