Canonical Allele Identifier: CA7649139
Gene: HCN4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.73324216G>A
GRCh37 chr15:g.73616557G>A
gnomAD v2:
15:73616557 G / A
gnomAD v3:
15:73324216 G / A
gnomAD v4:
chr15-73324216-G-A
Joint Max Group AF 0.00005834 (MID)
Genomes Max Group AF 0.00001914 (AFR)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000527673
RCV002420483
ClinVar Variation:
470652
dbSNP:
104894488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73324216G>A , CM000677.2:g.73324216G>A GRCh38
NC_000015.9:g.73616557G>A , CM000677.1:g.73616557G>A GRCh37
NC_000015.8:g.71403610G>A NCBI36
NG_009063.1:g.50049C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.2016C>T MANE Select ENSP00000261917.3:p.Ser672=
ENST00000261917.3:c.2016C>T ENSP00000261917.3:p.Ser672=
NM_005477.2:c.2016C>T NP_005468.1:p.Ser672=
XM_011521148.1:c.798C>T XP_011519450.1:p.Ser266=
XM_011521148.2:c.798C>T XP_011519450.1:p.Ser266=
NM_005477.3:c.2016C>T MANE Select NP_005468.1:p.Ser672=
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