Canonical Allele Identifier: CA10468711
Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2177872
ClinVar RCV Id: RCV002588401
dbSNP Id: rs765412420
ExAC: X:99596981 C / T
gnomAD v2: X-99596981-C-T
gnomAD v4: X-100341983-C-T
COSMIC: COSM1735680 COSM1735681
MyVariant Identifiers: chrX:g.99596981C>T (hg19) chrX:g.100341983C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100341983C>T , CM000685.2:g.100341983C>T GRCh38
NC_000023.10:g.99596981C>T , CM000685.1:g.99596981C>T GRCh37
NC_000023.9:g.99483637C>T NCBI36
NG_021319.1:g.73291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255531.8:c.2627G>A ENSP00000255531.7:p.Arg876Gln
ENST00000373034.8:c.2768G>A MANE Select ENSP00000362125.4:p.Arg923Gln
ENST00000420881.6:c.2624G>A ENSP00000400327.2:p.Arg875Gln
NM_001105243.1:c.2627G>A NP_001098713.1:p.Arg876Gln
NM_001184880.1:c.2768G>A NP_001171809.1:p.Arg923Gln
NM_020766.2:c.2624G>A NP_065817.2:p.Arg875Gln
XM_011530997.1:c.2765G>A XP_011529299.1:p.Arg922Gln
XM_011530997.2:c.2765G>A XP_011529299.1:p.Arg922Gln
NM_001105243.2:c.2627G>A NP_001098713.1:p.Arg876Gln
NM_001184880.2:c.2768G>A MANE Select NP_001171809.1:p.Arg923Gln
NM_020766.3:c.2624G>A NP_065817.2:p.Arg875Gln
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