Canonical Allele Identifier: CA7648838

Gene: HCN4

Linked Data

• ClinVar Variation Id: 518776
• ClinVar RCV Id: RCV000622158 ; RCV000658270 ; RCV001066403
• dbSNP Id: rs779132775
• ExAC: 15:73615052 C / T
• gnomAD v2: 15-73615052-C-T
• gnomAD v3: 15-73322711-C-T
• gnomAD v4: 15-73322711-C-T
• MyVariant Identifiers: chr15:g.73615052C>T (hg19) ; chr15:g.73322711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73322711C>T , CM000677.2:g.73322711C>T	GRCh38
NC_000015.9:g.73615052C>T , CM000677.1:g.73615052C>T	GRCh37
NC_000015.8:g.71402105C>T	NCBI36
NG_009063.1:g.51554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.3382G>A MANE Select	ENSP00000261917.3:p.Gly1128Ser
ENST00000261917.3:c.3382G>A	ENSP00000261917.3:p.Gly1128Ser
NM_005477.2:c.3382G>A	NP_005468.1:p.Gly1128Ser
XM_011521148.1:c.2164G>A	XP_011519450.1:p.Gly722Ser
XM_011521148.2:c.2164G>A	XP_011519450.1:p.Gly722Ser
NM_005477.3:c.3382G>A MANE Select	NP_005468.1:p.Gly1128Ser