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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:
CA393090869
Gene: HCN4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1198087007
gnomAD v2:
15-73617472-G-A
gnomAD v3:
15-73325131-G-A
gnomAD v4:
15-73325131-G-A
MyVariant Identifiers:
chr15:g.73617472G>A (hg19)
chr15:g.73325131G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.73325131G>A , CM000677.2:g.73325131G>A
GRCh38
NC_000015.9:g.73617472G>A , CM000677.1:g.73617472G>A
GRCh37
NC_000015.8:g.71404525G>A
NCBI36
NG_009063.1:g.49134C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.1802C>T
MANE Select
ENSP00000261917.3:p.Pro601Leu
ENST00000261917.3:c.1802C>T
ENSP00000261917.3:p.Pro601Leu
NM_005477.2:c.1802C>T
NP_005468.1:p.Pro601Leu
XM_011521148.1:c.584C>T
XP_011519450.1:p.Pro195Leu
XM_011521148.2:c.584C>T
XP_011519450.1:p.Pro195Leu
NM_005477.3:c.1802C>T
MANE Select
NP_005468.1:p.Pro601Leu
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