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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA393086255
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2903155
ClinVar RCV Id:
RCV003615316
dbSNP Id:
rs1375231724
gnomAD v2:
15-73615352-G-C
gnomAD v4:
15-73323011-G-C
MyVariant Identifiers:
chr15:g.73615352G>C (hg19)
chr15:g.73323011G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73323011G>C , CM000677.2:g.73323011G>C
GRCh38
NC_000015.9:g.73615352G>C , CM000677.1:g.73615352G>C
GRCh37
NC_000015.8:g.71402405G>C
NCBI36
NG_009063.1:g.51254C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261917.4:c.3082C>G
MANE Select
ENSP00000261917.3:p.Pro1028Ala
ENST00000261917.3:c.3082C>G
ENSP00000261917.3:p.Pro1028Ala
NM_005477.2:c.3082C>G
NP_005468.1:p.Pro1028Ala
XM_011521148.1:c.1864C>G
XP_011519450.1:p.Pro622Ala
XM_011521148.2:c.1864C>G
XP_011519450.1:p.Pro622Ala
NM_005477.3:c.3082C>G
MANE Select
NP_005468.1:p.Pro1028Ala
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