Canonical Allele Identifier: CA2898194
Gene: CHRNA9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2370961
ClinVar RCV Id: RCV004207750
dbSNP Id: rs752236042
ExAC: 4:40356497 T / C
gnomAD v2: 4-40356497-T-C
gnomAD v4: 4-40354480-T-C
MyVariant Identifiers: chr4:g.40356497T>C (hg19) chr4:g.40354480T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40354480T>C , CM000666.2:g.40354480T>C GRCh38
NC_000004.11:g.40356497T>C , CM000666.1:g.40356497T>C GRCh37
NC_000004.10:g.40051254T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310169.3:c.1400T>C MANE Select ENSP00000312663.2:p.Val467Ala
ENST00000310169.2:c.1400T>C ENSP00000312663.2:p.Val467Ala
NM_017581.3:c.1400T>C NP_060051.2:p.Val467Ala
NM_017581.4:c.1400T>C MANE Select NP_060051.2:p.Val467Ala
Search 100 bp 5'
Search 100 bp 3'