Canonical Allele Identifier: CA149099

Gene: NLGN4X

Linked Data

• ClinVar Variation Id: 95980
• ClinVar RCV Id: RCV000082034 ; RCV000949113 ; RCV000990468
• dbSNP Id: rs3747333
• ExAC: X:5811532 G / A
• gnomAD v2: X-5811532-G-A
• gnomAD v3: X-5893491-G-A
• gnomAD v4: X-5893491-G-A
• MyVariant Identifiers: chrX:g.5811532G>A (hg19) ; chrX:g.5893491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.5893491G>A , CM000685.2:g.5893491G>A	GRCh38
NC_000023.10:g.5811532G>A , CM000685.1:g.5811532G>A	GRCh37
NC_000023.9:g.5821532G>A	NCBI36
NG_008881.1:g.340175C>T
NG_008881.2:g.340392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381095.8:c.1777C>T MANE Select	ENSP00000370485.3:p.Leu593Phe
ENST00000538097.6:c.1837C>T	ENSP00000439203.3:p.Leu613Phe
ENST00000275857.10:c.1777C>T	ENSP00000275857.6:p.Leu593Phe
ENST00000381092.1:c.1777C>T	ENSP00000370482.1:p.Leu593Phe
ENST00000381093.6:c.1777C>T	ENSP00000370483.3:p.Leu593Phe
ENST00000381095.7:c.1777C>T	ENSP00000370485.3:p.Leu593Phe
ENST00000477079.1:n.277+9586C>T
ENST00000538097.5:c.1780C>T	ENSP00000439203.2:p.Leu594Phe
NM_001282145.1:c.1777C>T	NP_001269074.1:p.Leu593Phe
NM_001282146.1:c.1777C>T	NP_001269075.1:p.Leu593Phe
NM_020742.3:c.1777C>T	NP_065793.1:p.Leu593Phe
NM_181332.2:c.1777C>T	NP_851849.1:p.Leu593Phe
XM_005274564.1:c.1837C>T	XP_005274621.1:p.Leu613Phe
XM_005274565.1:c.1837C>T	XP_005274622.1:p.Leu613Phe
XM_005274566.3:c.1837C>T	XP_005274623.1:p.Leu613Phe
XM_006724504.2:c.1837C>T	XP_006724567.1:p.Leu613Phe
XM_011545547.1:c.1837C>T	XP_011543849.1:p.Leu613Phe
XM_011545548.1:c.1837C>T	XP_011543850.1:p.Leu613Phe
XM_005274564.3:c.1837C>T	XP_005274621.1:p.Leu613Phe
XM_005274565.2:c.1837C>T	XP_005274622.1:p.Leu613Phe
XM_005274566.4:c.1837C>T	XP_005274623.1:p.Leu613Phe
XM_006724504.3:c.1837C>T	XP_006724567.1:p.Leu613Phe
XM_011545547.2:c.1837C>T	XP_011543849.1:p.Leu613Phe
XM_011545548.2:c.1837C>T	XP_011543850.1:p.Leu613Phe
XM_017029691.1:c.1777C>T	XP_016885180.1:p.Leu593Phe
XM_017029692.1:c.1777C>T	XP_016885181.1:p.Leu593Phe
XM_017029693.1:c.1777C>T	XP_016885182.1:p.Leu593Phe
NM_181332.3:c.1777C>T MANE Select	NP_851849.1:p.Leu593Phe
NM_001282145.2:c.1777C>T	NP_001269074.1:p.Leu593Phe
NM_001282146.2:c.1777C>T	NP_001269075.1:p.Leu593Phe
NM_020742.4:c.1777C>T	NP_065793.1:p.Leu593Phe