Canonical Allele Identifier: CA16614725

Gene: HCN4

Linked Data

• ClinVar Variation Id: 404135
• ClinVar RCV Id: RCV000456499 ; RCV002451064
• dbSNP Id: rs372243234
• gnomAD v2: 15-73614866-C-T
• gnomAD v3: 15-73322525-C-T
• gnomAD v4: 15-73322525-C-T
• MyVariant Identifiers: chr15:g.73614866C>T (hg19) ; chr15:g.73322525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322525C>T , CM000677.2:g.73322525C>T	GRCh38
NC_000015.9:g.73614866C>T , CM000677.1:g.73614866C>T	GRCh37
NC_000015.8:g.71401919C>T	NCBI36
NG_009063.1:g.51740G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.3568G>A MANE Select	ENSP00000261917.3:p.Ala1190Thr
ENST00000261917.3:c.3568G>A	ENSP00000261917.3:p.Ala1190Thr
NM_005477.2:c.3568G>A	NP_005468.1:p.Ala1190Thr
XM_011521148.1:c.2350G>A	XP_011519450.1:p.Ala784Thr
XM_011521148.2:c.2350G>A	XP_011519450.1:p.Ala784Thr
NM_005477.3:c.3568G>A MANE Select	NP_005468.1:p.Ala1190Thr