Canonical Allele Identifier: CA393093514
Gene: HCN4 HGNC NCBI

Linked Data

dbSNP Id: rs1430250586
gnomAD v2: 15-73621958-G-A
gnomAD v4: 15-73329617-G-A
MyVariant Identifiers: chr15:g.73621958G>A (hg19) chr15:g.73329617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73329617G>A , CM000677.2:g.73329617G>A GRCh38
NC_000015.9:g.73621958G>A , CM000677.1:g.73621958G>A GRCh37
NC_000015.8:g.71409011G>A NCBI36
NG_009063.1:g.44648C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.1546C>T MANE Select ENSP00000261917.3:p.Leu516Phe
ENST00000261917.3:c.1546C>T ENSP00000261917.3:p.Leu516Phe
NM_005477.2:c.1546C>T NP_005468.1:p.Leu516Phe
XM_011521148.1:c.328C>T XP_011519450.1:p.Leu110Phe
XM_011521148.2:c.328C>T XP_011519450.1:p.Leu110Phe
NM_005477.3:c.1546C>T MANE Select NP_005468.1:p.Leu516Phe
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