Canonical Allele Identifier: CA952277224
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1876931658
gnomAD v3: 12-117357998-C-G
gnomAD v4: 12-117357998-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117357998C>G , CM000674.2:g.117357998C>G GRCh38
NC_000012.11:g.117795803C>G , CM000674.1:g.117795803C>G GRCh37
NC_000012.10:g.116280186C>G NCBI36
NG_011991.2:g.8780G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317775.11:c.-421+3514G>C MANE Select ENSP00000320758.6:n.-421+3514G>C
ENST00000317775.10:c.-421+3514G>C ENSP00000320758.6:n.-421+3514G>C
ENST00000477584.1:n.118+3514G>C
ENST00000549189.1:n.471-26509G>C
ENST00000618760.4:c.-421+3514G>C ENSP00000477999.1:n.-421+3514G>C
NM_000620.4:c.-421+3514G>C NP_000611.1:n.-421+3514G>C
NM_001204218.1:c.-421+3514G>C NP_001191147.1:n.-421+3514G>C
XM_011538398.1:c.-421+993G>C XP_011536700.1:n.-421+993G>C
NM_000620.5:c.-421+3514G>C MANE Select NP_000611.1:n.-421+3514G>C
NM_001204218.2:c.-421+3514G>C NP_001191147.1:n.-421+3514G>C
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