Canonical Allele Identifier: CA7648933

Gene: HCN4

Linked Data

• ClinVar Variation Id: 470661
• ClinVar RCV Id: RCV000532279 ; RCV000619751 ; RCV001455931
• dbSNP Id: rs570068696
• ExAC: 15:73615533 G / A
• gnomAD: 15:73615533 G / A
• MyVariant Identifiers: chr15:g.73615533G>A (hg19) ; chr15:g.73323192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323192G>A , CM000677.2:g.73323192G>A	GRCh38
NC_000015.9:g.73615533G>A , CM000677.1:g.73615533G>A	GRCh37
NC_000015.8:g.71402586G>A	NCBI36
NG_009063.1:g.51073C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2901C>T MANE Select	ENSP00000261917.3:p.Ser967=
ENST00000261917.3:c.2901C>T	ENSP00000261917.3:p.Ser967=
NM_005477.2:c.2901C>T	NP_005468.1:p.Ser967=
XM_011521148.1:c.1683C>T	XP_011519450.1:p.Ser561=
XM_011521148.2:c.1683C>T	XP_011519450.1:p.Ser561=
NM_005477.3:c.2901C>T MANE Select	NP_005468.1:p.Ser967=