Canonical Allele Identifier: CA7648838
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 518776
ClinVar RCV Id: RCV000622158 RCV000658270 RCV001066403
dbSNP Id: rs779132775
ExAC: 15:73615052 C / T
gnomAD v2: 15-73615052-C-T
gnomAD v3: 15-73322711-C-T
gnomAD v4: 15-73322711-C-T
MyVariant Identifiers: chr15:g.73615052C>T (hg19) chr15:g.73322711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322711C>T , CM000677.2:g.73322711C>T GRCh38
NC_000015.9:g.73615052C>T , CM000677.1:g.73615052C>T GRCh37
NC_000015.8:g.71402105C>T NCBI36
NG_009063.1:g.51554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261917.4:c.3382G>A MANE Select ENSP00000261917.3:p.Gly1128Ser
ENST00000261917.3:c.3382G>A ENSP00000261917.3:p.Gly1128Ser
NM_005477.2:c.3382G>A NP_005468.1:p.Gly1128Ser
XM_011521148.1:c.2164G>A XP_011519450.1:p.Gly722Ser
XM_011521148.2:c.2164G>A XP_011519450.1:p.Gly722Ser
NM_005477.3:c.3382G>A MANE Select NP_005468.1:p.Gly1128Ser
Search 100 bp 5'
Search 100 bp 3'