Canonical Allele Identifier: CA10604882

Gene: NLGN4X

Linked Data

• ClinVar Variation Id: 284715
• ClinVar RCV Id: RCV000274385 ; RCV000678276
• dbSNP Id: rs886042929
• gnomAD v4: X-5893009-C-G
• MyVariant Identifiers: chrX:g.5811050C>G (hg19) ; chrX:g.5893009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.5893009C>G , CM000685.2:g.5893009C>G	GRCh38
NC_000023.10:g.5811050C>G , CM000685.1:g.5811050C>G	GRCh37
NC_000023.9:g.5821050C>G	NCBI36
NG_008881.1:g.340657G>C
NG_008881.2:g.340874G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381095.8:c.2259G>C MANE Select	ENSP00000370485.3:p.Arg753Ser
ENST00000538097.6:c.2319G>C	ENSP00000439203.3:p.Arg773Ser
ENST00000275857.10:c.2259G>C	ENSP00000275857.6:p.Arg753Ser
ENST00000381092.1:c.2259G>C	ENSP00000370482.1:p.Arg753Ser
ENST00000381093.6:c.2259G>C	ENSP00000370483.3:p.Arg753Ser
ENST00000381095.7:c.2259G>C	ENSP00000370485.3:p.Arg753Ser
ENST00000477079.1:n.277+10068G>C
ENST00000538097.5:c.2262G>C	ENSP00000439203.2:p.Arg754Ser
NM_001282145.1:c.2259G>C	NP_001269074.1:p.Arg753Ser
NM_001282146.1:c.2259G>C	NP_001269075.1:p.Arg753Ser
NM_020742.3:c.2259G>C	NP_065793.1:p.Arg753Ser
NM_181332.2:c.2259G>C	NP_851849.1:p.Arg753Ser
XM_005274564.1:c.2319G>C	XP_005274621.1:p.Arg773Ser
XM_005274565.1:c.2319G>C	XP_005274622.1:p.Arg773Ser
XM_005274566.3:c.2319G>C	XP_005274623.1:p.Arg773Ser
XM_006724504.2:c.2319G>C	XP_006724567.1:p.Arg773Ser
XM_011545547.1:c.2319G>C	XP_011543849.1:p.Arg773Ser
XM_011545548.1:c.2319G>C	XP_011543850.1:p.Arg773Ser
XM_005274564.3:c.2319G>C	XP_005274621.1:p.Arg773Ser
XM_005274565.2:c.2319G>C	XP_005274622.1:p.Arg773Ser
XM_005274566.4:c.2319G>C	XP_005274623.1:p.Arg773Ser
XM_006724504.3:c.2319G>C	XP_006724567.1:p.Arg773Ser
XM_011545547.2:c.2319G>C	XP_011543849.1:p.Arg773Ser
XM_011545548.2:c.2319G>C	XP_011543850.1:p.Arg773Ser
XM_017029691.1:c.2259G>C	XP_016885180.1:p.Arg753Ser
XM_017029692.1:c.2259G>C	XP_016885181.1:p.Arg753Ser
XM_017029693.1:c.2259G>C	XP_016885182.1:p.Arg753Ser
NM_181332.3:c.2259G>C MANE Select	NP_851849.1:p.Arg753Ser
NM_001282145.2:c.2259G>C	NP_001269074.1:p.Arg753Ser
NM_001282146.2:c.2259G>C	NP_001269075.1:p.Arg753Ser
NM_020742.4:c.2259G>C	NP_065793.1:p.Arg753Ser