Canonical Allele Identifier: CA393086215

Gene: HCN4

Linked Data

• ClinVar Variation Id: 935983
• ClinVar RCV Id: RCV001204692 ; RCV002322006 ; RCV002484109 ; RCV003398932
• dbSNP Id: rs1158677290
• gnomAD v2: 15-73615334-G-A
• gnomAD v3: 15-73322993-G-A
• gnomAD v4: 15-73322993-G-A
• MyVariant Identifiers: chr15:g.73615334G>A (hg19) ; chr15:g.73322993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322993G>A , CM000677.2:g.73322993G>A	GRCh38
NC_000015.9:g.73615334G>A , CM000677.1:g.73615334G>A	GRCh37
NC_000015.8:g.71402387G>A	NCBI36
NG_009063.1:g.51272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3100C>T MANE Select	ENSP00000261917.3:p.Pro1034Ser
ENST00000261917.3:c.3100C>T	ENSP00000261917.3:p.Pro1034Ser
NM_005477.2:c.3100C>T	NP_005468.1:p.Pro1034Ser
XM_011521148.1:c.1882C>T	XP_011519450.1:p.Pro628Ser
XM_011521148.2:c.1882C>T	XP_011519450.1:p.Pro628Ser
NM_005477.3:c.3100C>T MANE Select	NP_005468.1:p.Pro1034Ser