Canonical Allele Identifier: CA1162908

Gene: NAXE

Linked Data

• ClinVar Variation Id: 423273
• ClinVar RCV Id: RCV000484708
• dbSNP Id: rs770023429
• ExAC: 1:156563742 A / C
• gnomAD v2: 1-156563742-A-C
• gnomAD v3: 1-156593950-A-C
• gnomAD v4: 1-156593950-A-C
• MyVariant Identifiers: chr1:g.156563742A>C (hg19) ; chr1:g.156593950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156593950A>C , CM000663.2:g.156593950A>C	GRCh38
NC_000001.10:g.156563742A>C , CM000663.1:g.156563742A>C	GRCh37
NC_000001.9:g.154830366A>C	NCBI36
NG_052542.1:g.7185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368235.8:c.733A>C MANE Select	ENSP00000357218.3:p.Lys245Gln
ENST00000467374.2:n.1906A>C
ENST00000679369.1:c.553+395A>C	ENSP00000505883.1:n.553+395A>C
ENST00000679649.1:n.772A>C
ENST00000679702.1:c.733A>C	ENSP00000505913.1:p.Lys245Gln
ENST00000679913.1:n.937A>C
ENST00000680004.1:c.733A>C	ENSP00000506275.1:p.Lys245Gln
ENST00000680087.1:c.664+395A>C	ENSP00000505907.1:n.664+395A>C
ENST00000680269.1:c.733A>C	ENSP00000505899.1:p.Lys245Gln
ENST00000680529.1:n.917A>C
ENST00000680661.1:c.664+395A>C	ENSP00000505088.1:n.664+395A>C
ENST00000681054.1:c.733A>C	ENSP00000506192.1:p.Lys245Gln
ENST00000681523.1:c.733A>C	ENSP00000505349.1:p.Lys245Gln
ENST00000681645.1:n.1098A>C
ENST00000681734.1:c.670A>C	ENSP00000506177.1:p.Lys224Gln
ENST00000681825.1:n.1274A>C
ENST00000681922.1:n.1509A>C
ENST00000368234.7:c.677A>C	ENSP00000357217.3:p.Gln226Pro
ENST00000368235.7:c.733A>C	ENSP00000357218.3:p.Lys245Gln
ENST00000488840.1:n.350A>C
NM_144772.2:c.733A>C	NP_658985.2:p.Lys245Gln
XM_017000319.2:c.681+378A>C	XP_016855808.1:n.681+378A>C
NM_144772.3:c.733A>C MANE Select	NP_658985.2:p.Lys245Gln