Canonical Allele Identifier: CA393086256
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1727380
ClinVar RCV Id: RCV002319895
dbSNP Id: rs1375231724
gnomAD v2: 15-73615352-G-T
gnomAD v3: 15-73323011-G-T
gnomAD v4: 15-73323011-G-T
MyVariant Identifiers: chr15:g.73615352G>T (hg19) chr15:g.73323011G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73323011G>T , CM000677.2:g.73323011G>T GRCh38
NC_000015.9:g.73615352G>T , CM000677.1:g.73615352G>T GRCh37
NC_000015.8:g.71402405G>T NCBI36
NG_009063.1:g.51254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3082C>A MANE Select ENSP00000261917.3:p.Pro1028Thr
ENST00000261917.3:c.3082C>A ENSP00000261917.3:p.Pro1028Thr
NM_005477.2:c.3082C>A NP_005468.1:p.Pro1028Thr
XM_011521148.1:c.1864C>A XP_011519450.1:p.Pro622Thr
XM_011521148.2:c.1864C>A XP_011519450.1:p.Pro622Thr
NM_005477.3:c.3082C>A MANE Select NP_005468.1:p.Pro1028Thr
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