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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:
CA16043944
Gene: HCN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374861
ClinVar RCV Id:
RCV000415571
dbSNP Id:
rs1057519276
MyVariant Identifiers:
chr15:g.73624602G>C (hg19)
chr15:g.73332261G>C (hg38)
PubMed:
PMID:25145517
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73332261G>C , CM000677.2:g.73332261G>C
GRCh38
NC_000015.9:g.73624602G>C , CM000677.1:g.73624602G>C
GRCh37
NC_000015.8:g.71411655G>C
NCBI36
NG_009063.1:g.42004C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.1241C>G
MANE Select
ENSP00000261917.3:p.Ala414Gly
ENST00000261917.3:c.1241C>G
ENSP00000261917.3:p.Ala414Gly
NM_005477.2:c.1241C>G
NP_005468.1:p.Ala414Gly
XM_011521148.1:c.23C>G
XP_011519450.1:p.Ala8Gly
XM_011521148.2:c.23C>G
XP_011519450.1:p.Ala8Gly
NM_005477.3:c.1241C>G
MANE Select
NP_005468.1:p.Ala414Gly
Search 100 bp 5'
Search 100 bp 3'