Canonical Allele Identifier: CA236699

Gene: HCN4

Linked Data

• ClinVar Variation Id: 191451
• ClinVar RCV Id: RCV001296051
• dbSNP Id: rs202138767
• gnomAD v2: 15-73615889-C-A
• gnomAD v3: 15-73323548-C-A
• gnomAD v4: 15-73323548-C-A
• MyVariant Identifiers: chr15:g.73615889C>A (hg19) ; chr15:g.73323548C>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323548C>A , CM000677.2:g.73323548C>A	GRCh38
NC_000015.9:g.73615889C>A , CM000677.1:g.73615889C>A	GRCh37
NC_000015.8:g.71402942C>A	NCBI36
NG_009063.1:g.50717G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2545G>T MANE Select	ENSP00000261917.3:p.Val849Leu
ENST00000261917.3:c.2545G>T	ENSP00000261917.3:p.Val849Leu
NM_005477.2:c.2545G>T	NP_005468.1:p.Val849Leu
XM_011521148.1:c.1327G>T	XP_011519450.1:p.Val443Leu
XM_011521148.2:c.1327G>T	XP_011519450.1:p.Val443Leu
NM_005477.3:c.2545G>T MANE Select	NP_005468.1:p.Val849Leu