Canonical Allele Identifier: CA7233831

Gene: GPHN

Linked Data

• ClinVar Variation Id: 466213
• ClinVar RCV Id: RCV000525871 ; RCV001084970 ; RCV000615079 ; RCV002491021 ; RCV002528404 ; RCV003915563
• dbSNP Id: rs41285470
• ExAC: 14:67390981 A / G
• gnomAD v2: 14-67390981-A-G
• gnomAD v3: 14-66924264-A-G
• gnomAD v4: 14-66924264-A-G
• MyVariant Identifiers: chr14:g.67390981A>G (hg19) ; chr14:g.66924264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.66924264A>G , CM000676.2:g.66924264A>G	GRCh38
NC_000014.8:g.67390981A>G , CM000676.1:g.67390981A>G	GRCh37
NC_000014.7:g.66460734A>G	NCBI36
NG_008875.1:g.421857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478722.6:c.800A>G MANE Select	ENSP00000417901.1:p.Asn267Ser
ENST00000315266.9:c.729+1326A>G	ENSP00000312771.5:n.729+1326A>G
ENST00000459628.5:c.746A>G	ENSP00000452220.1:p.Asn249Ser
ENST00000478722.5:c.800A>G	ENSP00000417901.1:p.Asn267Ser
ENST00000543237.5:c.768+1326A>G	ENSP00000438404.1:n.768+1326A>G
ENST00000544752.6:n.848A>G
ENST00000555456.1:c.528+1326A>G	ENSP00000450706.1:n.528+1326A>G
NM_001024218.1:c.729+1326A>G	NP_001019389.1:n.729+1326A>G
NM_020806.4:c.800A>G	NP_065857.1:p.Asn267Ser
XM_005267254.2:c.729+1326A>G	XP_005267311.1:n.729+1326A>G
XM_011536340.1:c.839A>G	XP_011534642.1:p.Asn280Ser
XM_011536342.1:c.800A>G	XP_011534644.1:p.Asn267Ser
XM_011536343.1:c.839A>G	XP_011534645.1:p.Asn280Ser
XM_011536344.1:c.768+1326A>G	XP_011534646.1:n.768+1326A>G
XM_011536345.1:c.839A>G	XP_011534647.1:p.Asn280Ser
XM_011536346.1:c.729+1326A>G	XP_011534648.1:n.729+1326A>G
XM_011536347.1:c.768+1326A>G	XP_011534649.1:n.768+1326A>G
XM_011536349.1:c.839A>G	XP_011534651.1:p.Asn280Ser
XM_005267254.4:c.729+1326A>G	XP_005267311.1:n.729+1326A>G
XM_011536340.3:c.839A>G	XP_011534642.1:p.Asn280Ser
XM_011536342.3:c.800A>G	XP_011534644.1:p.Asn267Ser
XM_011536343.3:c.839A>G	XP_011534645.1:p.Asn280Ser
XM_011536344.3:c.768+1326A>G	XP_011534646.1:n.768+1326A>G
XM_011536345.3:c.839A>G	XP_011534647.1:p.Asn280Ser
XM_011536346.3:c.729+1326A>G	XP_011534648.1:n.729+1326A>G
XM_011536347.2:c.768+1326A>G	XP_011534649.1:n.768+1326A>G
XM_017020913.2:c.839A>G	XP_016876402.1:p.Asn280Ser
XM_017020914.2:c.839A>G	XP_016876403.1:p.Asn280Ser
XM_017020915.2:c.768+1326A>G	XP_016876404.1:n.768+1326A>G
XM_017020916.2:c.729+1326A>G	XP_016876405.1:n.729+1326A>G
XM_017020917.2:c.768+1326A>G	XP_016876406.1:n.768+1326A>G
XM_017020918.2:c.768+1326A>G	XP_016876407.1:n.768+1326A>G
XM_017020919.2:c.729+1326A>G	XP_016876408.1:n.729+1326A>G
XM_017020920.2:c.659A>G	XP_016876409.1:p.Asn220Ser
XM_017020921.1:c.470A>G	XP_016876410.1:p.Asn157Ser
XM_017020922.1:c.470A>G	XP_016876411.1:p.Asn157Ser
XM_017020923.1:c.470A>G	XP_016876412.1:p.Asn157Ser
XM_017020924.1:c.-244+1326A>G	XP_016876413.1:n.-244+1326A>G
XM_017020925.2:c.839A>G	XP_016876414.1:p.Asn280Ser
XM_017020926.1:c.-244+1326A>G	XP_016876415.1:n.-244+1326A>G
NM_001377514.1:c.768+1326A>G	NP_001364443.1:n.768+1326A>G
NM_001377515.1:c.729+1326A>G	NP_001364444.1:n.729+1326A>G
NM_001377516.1:c.729+1326A>G	NP_001364445.1:n.729+1326A>G
NM_001377517.1:c.729+1326A>G	NP_001364446.1:n.729+1326A>G
NM_001377518.1:c.729+1326A>G	NP_001364447.1:n.729+1326A>G
NM_001377519.1:c.768+1326A>G	NP_001364448.1:n.768+1326A>G
NM_001024218.2:c.729+1326A>G	NP_001019389.1:n.729+1326A>G
NM_020806.5:c.800A>G MANE Select	NP_065857.1:p.Asn267Ser