Allele Registry

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

Canonical Allele Identifier: CA491478509

Gene: HCN4 HGNC NCBI

Linked Data

gnomAD v3: 15-73323405-T-G

gnomAD v4: 15-73323405-T-G

MyVariant Identifiers: chr15:g.73615746T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.73323405T>G , CM000677.2:g.73323405T>G	GRCh38
NC_000015.9:g.73615746T>G , CM000677.1:g.73615746T>G	GRCh37
NC_000015.8:g.71402799T>G	NCBI36
NG_009063.1:g.50860A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261917.4:c.2688A>C MANE Select	ENSP00000261917.3:p.Ser896=
ENST00000261917.3:c.2688A>C	ENSP00000261917.3:p.Ser896=
NM_005477.2:c.2688A>C	NP_005468.1:p.Ser896=
XM_011521148.1:c.1470A>C	XP_011519450.1:p.Ser490=
XM_011521148.2:c.1470A>C	XP_011519450.1:p.Ser490=
NM_005477.3:c.2688A>C MANE Select	NP_005468.1:p.Ser896=