Canonical Allele Identifier: CA16076586

Gene: NAV1

Linked Data

• dbSNP Id: rs586688
• gnomAD v2: 1-201630955-G-A
• gnomAD v3: 1-201661827-G-A
• gnomAD v4: 1-201661827-G-A
• MyVariant Identifiers: chr1:g.201630955G>A (hg19) ; chr1:g.201661827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201661827G>A , CM000663.2:g.201661827G>A	GRCh38
NC_000001.10:g.201630955G>A , CM000663.1:g.201630955G>A	GRCh37
NC_000001.9:g.199897578G>A	NCBI36
NG_053179.1:g.18506G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685211.1:c.1618+12402G>A MANE Select	ENSP00000510803.1:n.1618+12402G>A
ENST00000367296.8:c.757+12402G>A	ENSP00000356265.4:n.757+12402G>A
ENST00000367302.5:c.796+12402G>A	ENSP00000356271.1:n.796+12402G>A
NM_020443.4:c.757+12402G>A	NP_065176.3:n.757+12402G>A
XM_011510097.1:c.757+12402G>A	XP_011508399.1:n.757+12402G>A
XM_011510098.1:c.757+12402G>A	XP_011508400.1:n.757+12402G>A
XM_011510099.1:c.757+12402G>A	XP_011508401.1:n.757+12402G>A
XM_011510100.1:c.757+12402G>A	XP_011508402.1:n.757+12402G>A
XM_011510101.1:c.757+12402G>A	XP_011508403.1:n.757+12402G>A
XM_011510102.1:c.757+12402G>A	XP_011508404.1:n.757+12402G>A
XM_011510103.1:c.826+32320G>A	XP_011508405.1:n.826+32320G>A
XR_921992.1:n.783+12402G>A
XM_011510097.2:c.757+12402G>A	XP_011508399.1:n.757+12402G>A
XM_011510098.2:c.757+12402G>A	XP_011508400.1:n.757+12402G>A
XM_011510099.2:c.757+12402G>A	XP_011508401.1:n.757+12402G>A
XM_011510100.2:c.757+12402G>A	XP_011508402.1:n.757+12402G>A
XM_011510101.2:c.757+12402G>A	XP_011508403.1:n.757+12402G>A
XM_011510102.2:c.757+12402G>A	XP_011508404.1:n.757+12402G>A
XM_017002751.2:c.757+12402G>A	XP_016858240.1:n.757+12402G>A
XM_017002753.2:c.757+12402G>A	XP_016858242.1:n.757+12402G>A
XM_017002754.2:c.757+12402G>A	XP_016858243.1:n.757+12402G>A
XM_024450645.1:c.826+32320G>A	XP_024306413.1:n.826+32320G>A
NM_001389615.1:c.1618+12402G>A	NP_001376544.1:n.1618+12402G>A
NM_001389616.1:c.1618+12402G>A	NP_001376545.1:n.1618+12402G>A
NM_001389617.1:c.1618+12402G>A MANE Select	NP_001376546.1:n.1618+12402G>A
NM_020443.5:c.757+12402G>A	NP_065176.3:n.757+12402G>A