Canonical Allele Identifier: CA7648832
Gene: HCN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373695
ClinVar RCV Id: RCV001882917
dbSNP Id: rs772582176
ExAC: 15:73615031 GGCCCCCGCTGCTCCCACT / G
gnomAD v2: 15-73615031-GGCCCCCGCTGCTCCCACT-G
gnomAD v4: 15-73322690-GGCCCCCGCTGCTCCCACT-G
MyVariant Identifiers: chr15:g.73615032_73615049del (hg19) chr15:g.73322691_73322708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.73322702_73322719del , CM000677.2:g.73322702_73322719del GRCh38
NC_000015.9:g.73615043_73615060del , CM000677.1:g.73615043_73615060del GRCh37
NC_000015.8:g.71402096_71402113del NCBI36
NG_009063.1:g.51557_51574del

Transcript Alleles

HGVS Amino-acid change
ENST00000261917.4:c.3385_3402del MANE Select ENSP00000261917.3:p.Ser1129_Gly1134del
ENST00000261917.3:c.3385_3402del ENSP00000261917.3:p.Ser1129_Gly1134del
NM_005477.2:c.3385_3402del NP_005468.1:p.Ser1129_Gly1134del
XM_011521148.1:c.2167_2184del XP_011519450.1:p.Ser723_Gly728del
XM_011521148.2:c.2167_2184del XP_011519450.1:p.Ser723_Gly728del
NM_005477.3:c.3385_3402del MANE Select NP_005468.1:p.Ser1129_Gly1134del
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