Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA393098753

Gene: HCN4 HGNC NCBI

Linked Data

dbSNP Id: rs2043138008

gnomAD v4: 15-73368078-T-C

MyVariant Identifiers: chr15:g.73660419T>C (hg19) chr15:g.73368078T>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73368078T>C , CM000677.2:g.73368078T>C	GRCh38
NC_000015.9:g.73660419T>C , CM000677.1:g.73660419T>C	GRCh37
NC_000015.8:g.71447472T>C	NCBI36
NG_009063.1:g.6187A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.193A>G MANE Select	ENSP00000261917.3:p.Thr65Ala
ENST00000261917.3:c.193A>G	ENSP00000261917.3:p.Thr65Ala
NM_005477.2:c.193A>G	NP_005468.1:p.Thr65Ala
NM_005477.3:c.193A>G MANE Select	NP_005468.1:p.Thr65Ala

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