Canonical Allele Identifier: CA7649376
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174971
ClinVar RCV Id: RCV001701194 RCV001529495 RCV002070363
dbSNP Id: rs773287506
ExAC: 15:73635882 G / A
gnomAD v2: 15-73635882-G-A
gnomAD v3: 15-73343541-G-A
gnomAD v4: 15-73343541-G-A
MyVariant Identifiers: chr15:g.73635882G>A (hg19) chr15:g.73343541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73343541G>A , CM000677.2:g.73343541G>A GRCh38
NC_000015.9:g.73635882G>A , CM000677.1:g.73635882G>A GRCh37
NC_000015.8:g.71422935G>A NCBI36
NG_009063.1:g.30724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.1053C>T MANE Select ENSP00000261917.3:p.Pro351=
ENST00000261917.3:c.1053C>T ENSP00000261917.3:p.Pro351=
NM_005477.2:c.1053C>T NP_005468.1:p.Pro351=
NM_005477.3:c.1053C>T MANE Select NP_005468.1:p.Pro351=
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