Canonical Allele Identifier: CA202780

Gene: HCN4

Linked Data

• ClinVar Variation Id: 137538
• ClinVar RCV Id: RCV000227507 ; RCV000621555 ; RCV000178242 ; RCV001115977 ; RCV001528998 ; RCV004530084
• dbSNP Id: rs139590882
• ExAC: 15:73621986 G / A
• gnomAD v2: 15-73621986-G-A
• gnomAD v3: 15-73329645-G-A
• gnomAD v4: 15-73329645-G-A
• MyVariant Identifiers: chr15:g.73621986G>A (hg19) ; chr15:g.73329645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73329645G>A , CM000677.2:g.73329645G>A	GRCh38
NC_000015.9:g.73621986G>A , CM000677.1:g.73621986G>A	GRCh37
NC_000015.8:g.71409039G>A	NCBI36
NG_009063.1:g.44620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261917.4:c.1518C>T MANE Select	ENSP00000261917.3:p.Tyr506=
ENST00000261917.3:c.1518C>T	ENSP00000261917.3:p.Tyr506=
NM_005477.2:c.1518C>T	NP_005468.1:p.Tyr506=
XM_011521148.1:c.300C>T	XP_011519450.1:p.Tyr100=
XM_011521148.2:c.300C>T	XP_011519450.1:p.Tyr100=
NM_005477.3:c.1518C>T MANE Select	NP_005468.1:p.Tyr506=