Canonical Allele Identifier: CA245041546
Gene: NOS1 HGNC NCBI

Linked Data

dbSNP Id: rs537927977
gnomAD v2: 12-117877520-G-A
gnomAD v3: 12-117439715-G-A
gnomAD v4: 12-117439715-G-A
MyVariant Identifiers: chr12:g.117877520G>A (hg19) chr12:g.117439715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117439715G>A , CM000674.2:g.117439715G>A GRCh38
NC_000012.11:g.117877520G>A , CM000674.1:g.117877520G>A GRCh37
NC_000012.10:g.116361903G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000549189.1:n.470+11986C>T
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