Canonical Allele Identifier: CA393084972
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040816
ClinVar RCV Id: RCV001344531
dbSNP Id: rs2042866287
gnomAD v4: 15-73322560-G-A
COSMIC: COSM4898413
MyVariant Identifiers: chr15:g.73614901G>A (hg19) chr15:g.73322560G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322560G>A , CM000677.2:g.73322560G>A GRCh38
NC_000015.9:g.73614901G>A , CM000677.1:g.73614901G>A GRCh37
NC_000015.8:g.71401954G>A NCBI36
NG_009063.1:g.51705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3533C>T MANE Select ENSP00000261917.3:p.Pro1178Leu
ENST00000261917.3:c.3533C>T ENSP00000261917.3:p.Pro1178Leu
NM_005477.2:c.3533C>T NP_005468.1:p.Pro1178Leu
XM_011521148.1:c.2315C>T XP_011519450.1:p.Pro772Leu
XM_011521148.2:c.2315C>T XP_011519450.1:p.Pro772Leu
NM_005477.3:c.3533C>T MANE Select NP_005468.1:p.Pro1178Leu
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