Canonical Allele Identifier: CA7649244

Gene: HCN4

Linked Data

• ClinVar Variation Id: 509927
• ClinVar RCV Id: RCV000604430 ; RCV000862714 ; RCV002404642
• dbSNP Id: rs544585089
• ExAC: 15:73617744 C / T
• gnomAD v2: 15-73617744-C-T
• gnomAD v3: 15-73325403-C-T
• gnomAD v4: 15-73325403-C-T
• MyVariant Identifiers: chr15:g.73617744C>T (hg19) ; chr15:g.73325403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73325403C>T , CM000677.2:g.73325403C>T	GRCh38
NC_000015.9:g.73617744C>T , CM000677.1:g.73617744C>T	GRCh37
NC_000015.8:g.71404797C>T	NCBI36
NG_009063.1:g.48862G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.1632G>A MANE Select	ENSP00000261917.3:p.Pro544=
ENST00000261917.3:c.1632G>A	ENSP00000261917.3:p.Pro544=
NM_005477.2:c.1632G>A	NP_005468.1:p.Pro544=
XM_011521148.1:c.414G>A	XP_011519450.1:p.Pro138=
XM_011521148.2:c.414G>A	XP_011519450.1:p.Pro138=
NM_005477.3:c.1632G>A MANE Select	NP_005468.1:p.Pro544=