Canonical Allele Identifier: CA2261612665
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913373C= , CM000679.2:g.44913373C= GRCh38
NC_000017.10:g.42990741C= , CM000679.1:g.42990741C= GRCh37
NC_000017.9:g.40346267C= NCBI36
NG_008401.1:g.7174G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.676G= ENSP00000253408.5:p.Val226=
ENST00000435360.8:c.676G= ENSP00000403962.1:p.Val226=
ENST00000253408.10:c.676G= ENSP00000253408.5:p.Val226=
ENST00000435360.7:c.676G= ENSP00000403962.1:p.Val226=
ENST00000586127.6:n.1205G=
ENST00000586793.6:c.676G= ENSP00000468500.2:p.Val226=
ENST00000587997.6:n.152G=
ENST00000588735.3:c.676G= MANE Select ENSP00000466598.2:p.Val226=
ENST00000591327.2:n.1830G=
ENST00000592320.6:c.618+355G= ENSP00000465320.1:n.618+355G=
ENST00000638281.1:c.676G= ENSP00000491088.1:p.Val226=
ENST00000638618.1:c.331G= ENSP00000492832.1:p.Val111=
ENST00000639277.1:c.676G= ENSP00000492432.1:p.Val226=
ENST00000640552.1:n.690G=
ENST00000253408.9:c.676G= ENSP00000253408.4:p.Val226=
ENST00000376990.8:c.*75G= ENSP00000366189.4:n.*75G=
ENST00000435360.6:c.676G= ENSP00000403962.1:p.Val226=
ENST00000585728.5:c.*320G= ENSP00000465208.1:n.*320G=
ENST00000586127.5:c.15G= ENSP00000464795.1:p.Thr5=
ENST00000586793.5:c.676G= ENSP00000468500.1:p.Val226=
ENST00000587997.5:c.152G=
ENST00000588316.1:c.580G= ENSP00000465629.1:p.Val194=
ENST00000588735.1:c.82+2032G= ENSP00000466598.1:n.82+2032G=
ENST00000588957.5:c.-57G= ENSP00000465565.1:n.-57G=
ENST00000590922.1:n.326G=
ENST00000592320.5:c.618+355G= ENSP00000465320.1:n.618+355G=
NM_001131019.2:c.676G= NP_001124491.1:p.Val226=
NM_001242376.1:c.676G= NP_001229305.1:p.Val226=
NM_002055.4:c.676G= NP_002046.1:p.Val226=
NM_001363846.1:c.676G= NP_001350775.1:p.Val226=
XM_024450690.1:c.880G= XP_024306458.1:p.Val294=
XM_024450691.1:c.880G= XP_024306459.1:p.Val294=
XM_024450692.1:c.880G= XP_024306460.1:p.Val294=
XM_024450693.1:c.880G= XP_024306461.1:p.Val294=
NM_002055.5:c.676G= MANE Select NP_002046.1:p.Val226=
NM_001131019.3:c.676G= NP_001124491.1:p.Val226=
NM_001242376.2:c.676G= NP_001229305.1:p.Val226=
NM_001242376.3:c.676G= NP_001229305.1:p.Val226=
NM_001363846.2:c.676G= NP_001350775.1:p.Val226=