Canonical Allele Identifier: CA7649368

Gene: HCN4

Linked Data

• ClinVar Variation Id: 1058362
• ClinVar RCV Id: RCV001367493 ; RCV004531171
• dbSNP Id: rs745346676
• ExAC: 15:73635841 G / A
• gnomAD v2: 15-73635841-G-A
• gnomAD v3: 15-73343500-G-A
• gnomAD v4: 15-73343500-G-A
• MyVariant Identifiers: chr15:g.73635841G>A (hg19) ; chr15:g.73343500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73343500G>A , CM000677.2:g.73343500G>A	GRCh38
NC_000015.9:g.73635841G>A , CM000677.1:g.73635841G>A	GRCh37
NC_000015.8:g.71422894G>A	NCBI36
NG_009063.1:g.30765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.1094C>T MANE Select	ENSP00000261917.3:p.Ser365Leu
ENST00000261917.3:c.1094C>T	ENSP00000261917.3:p.Ser365Leu
NM_005477.2:c.1094C>T	NP_005468.1:p.Ser365Leu
NM_005477.3:c.1094C>T MANE Select	NP_005468.1:p.Ser365Leu