Canonical Allele Identifier: CA15833715
Gene: GPHN HGNC NCBI

Linked Data

dbSNP Id: rs8020095
gnomAD v2: 14-67453858-G-A
gnomAD v3: 14-66987141-G-A
gnomAD v4: 14-66987141-G-A
MyVariant Identifiers: chr14:g.67453858G>A (hg19) chr14:g.66987141G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.66987141G>A , CM000676.2:g.66987141G>A GRCh38
NC_000014.8:g.67453858G>A , CM000676.1:g.67453858G>A GRCh37
NC_000014.7:g.66523611G>A NCBI36
NG_008875.1:g.484734G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000478722.6:c.963+21816G>A MANE Select ENSP00000417901.1:n.963+21816G>A
ENST00000315266.9:c.864+21816G>A ENSP00000312771.5:n.864+21816G>A
ENST00000459628.5:c.909+21816G>A ENSP00000452220.1:n.909+21816G>A
ENST00000478722.5:c.963+21816G>A ENSP00000417901.1:n.963+21816G>A
ENST00000543237.5:c.960+1403G>A ENSP00000438404.1:n.960+1403G>A
ENST00000544752.6:n.1011+21816G>A
ENST00000555456.1:c.720+1403G>A ENSP00000450706.1:n.720+1403G>A
NM_001024218.1:c.864+21816G>A NP_001019389.1:n.864+21816G>A
NM_020806.4:c.963+21816G>A NP_065857.1:n.963+21816G>A
XM_005267254.2:c.921+1403G>A XP_005267311.1:n.921+1403G>A
XM_011536340.1:c.1060-795G>A XP_011534642.1:n.1060-795G>A
XM_011536342.1:c.1021-795G>A XP_011534644.1:n.1021-795G>A
XM_011536343.1:c.1059+1403G>A XP_011534645.1:n.1059+1403G>A
XM_011536344.1:c.961-795G>A XP_011534646.1:n.961-795G>A
XM_011536345.1:c.1002+21816G>A XP_011534647.1:n.1002+21816G>A
XM_011536346.1:c.922-795G>A XP_011534648.1:n.922-795G>A
XM_011536347.1:c.903+21816G>A XP_011534649.1:n.903+21816G>A
XM_011536348.1:c.43-795G>A XP_011534650.1:n.43-795G>A
XM_011536349.1:c.1059+1403G>A XP_011534651.1:n.1059+1403G>A
XM_005267254.4:c.921+1403G>A XP_005267311.1:n.921+1403G>A
XM_011536340.3:c.1060-795G>A XP_011534642.1:n.1060-795G>A
XM_011536342.3:c.1021-795G>A XP_011534644.1:n.1021-795G>A
XM_011536343.3:c.1059+1403G>A XP_011534645.1:n.1059+1403G>A
XM_011536344.3:c.961-795G>A XP_011534646.1:n.961-795G>A
XM_011536345.3:c.1002+21816G>A XP_011534647.1:n.1002+21816G>A
XM_011536346.3:c.922-795G>A XP_011534648.1:n.922-795G>A
XM_011536347.2:c.903+21816G>A XP_011534649.1:n.903+21816G>A
XM_017020913.2:c.1059+1403G>A XP_016876402.1:n.1059+1403G>A
XM_017020914.2:c.1003-795G>A XP_016876403.1:n.1003-795G>A
XM_017020915.2:c.960+1403G>A XP_016876404.1:n.960+1403G>A
XM_017020916.2:c.921+1403G>A XP_016876405.1:n.921+1403G>A
XM_017020917.2:c.904-795G>A XP_016876406.1:n.904-795G>A
XM_017020918.2:c.960+1403G>A XP_016876407.1:n.960+1403G>A
XM_017020919.2:c.865-795G>A XP_016876408.1:n.865-795G>A
XM_017020920.2:c.822+21816G>A XP_016876409.1:n.822+21816G>A
XM_017020921.1:c.691-795G>A XP_016876410.1:n.691-795G>A
XM_017020922.1:c.691-795G>A XP_016876411.1:n.691-795G>A
XM_017020923.1:c.633+21816G>A XP_016876412.1:n.633+21816G>A
XM_017020924.1:c.43-795G>A XP_016876413.1:n.43-795G>A
XM_017020925.2:c.1060-795G>A XP_016876414.1:n.1060-795G>A
XM_017020926.1:c.42+1141G>A XP_016876415.1:n.42+1141G>A
NM_001377514.1:c.960+1403G>A NP_001364443.1:n.960+1403G>A
NM_001377515.1:c.922-795G>A NP_001364444.1:n.922-795G>A
NM_001377516.1:c.921+1403G>A NP_001364445.1:n.921+1403G>A
NM_001377517.1:c.865-795G>A NP_001364446.1:n.865-795G>A
NM_001377518.1:c.921+1403G>A NP_001364447.1:n.921+1403G>A
NM_001377519.1:c.903+21816G>A NP_001364448.1:n.903+21816G>A
NM_001024218.2:c.864+21816G>A NP_001019389.1:n.864+21816G>A
NM_020806.5:c.963+21816G>A MANE Select NP_065857.1:n.963+21816G>A
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