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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:
CA2898167
Gene: CHRNA9
HGNC
NCBI
Linked Data
dbSNP Id:
rs768375544
ExAC:
4:40356340 G / A
gnomAD v2:
4-40356340-G-A
gnomAD v3:
4-40354323-G-A
gnomAD v4:
4-40354323-G-A
MyVariant Identifiers:
chr4:g.40356340G>A (hg19)
chr4:g.40354323G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.40354323G>A , CM000666.2:g.40354323G>A
GRCh38
NC_000004.11:g.40356340G>A , CM000666.1:g.40356340G>A
GRCh37
NC_000004.10:g.40051097G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000310169.3:c.1243G>A
MANE Select
ENSP00000312663.2:p.Glu415Lys
ENST00000310169.2:c.1243G>A
ENSP00000312663.2:p.Glu415Lys
NM_017581.3:c.1243G>A
NP_060051.2:p.Glu415Lys
NM_017581.4:c.1243G>A
MANE Select
NP_060051.2:p.Glu415Lys
Search 100 bp 5'
Search 100 bp 3'