Canonical Allele Identifier: CA393086060
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475547
ClinVar RCV Id: RCV002007901
dbSNP Id: rs764262532
gnomAD v2: 15-73615255-G-A
gnomAD v3: 15-73322914-G-A
gnomAD v4: 15-73322914-G-A
MyVariant Identifiers: chr15:g.73615255G>A (hg19) chr15:g.73322914G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322914G>A , CM000677.2:g.73322914G>A GRCh38
NC_000015.9:g.73615255G>A , CM000677.1:g.73615255G>A GRCh37
NC_000015.8:g.71402308G>A NCBI36
NG_009063.1:g.51351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3179C>T MANE Select ENSP00000261917.3:p.Pro1060Leu
ENST00000261917.3:c.3179C>T ENSP00000261917.3:p.Pro1060Leu
NM_005477.2:c.3179C>T NP_005468.1:p.Pro1060Leu
XM_011521148.1:c.1961C>T XP_011519450.1:p.Pro654Leu
XM_011521148.2:c.1961C>T XP_011519450.1:p.Pro654Leu
NM_005477.3:c.3179C>T MANE Select NP_005468.1:p.Pro1060Leu
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