Canonical Allele Identifier: CA2840515088
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913475C>A , CM000679.2:g.44913475C>A GRCh38
NC_000017.10:g.42990843C>A , CM000679.1:g.42990843C>A GRCh37
NC_000017.9:g.40346369C>A NCBI36
NG_008401.1:g.7072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.619-45G>T ENSP00000253408.5:n.619-45G>T
ENST00000435360.8:c.619-45G>T ENSP00000403962.1:n.619-45G>T
ENST00000253408.10:c.619-45G>T ENSP00000253408.5:n.619-45G>T
ENST00000435360.7:c.619-45G>T ENSP00000403962.1:n.619-45G>T
ENST00000586127.6:n.1148-45G>T
ENST00000586793.6:c.619-45G>T ENSP00000468500.2:n.619-45G>T
ENST00000587997.6:n.95-45G>T
ENST00000588735.3:c.619-45G>T MANE Select ENSP00000466598.2:n.619-45G>T
ENST00000591327.2:n.1773-45G>T
ENST00000592320.6:c.618+253G>T ENSP00000465320.1:n.618+253G>T
ENST00000638281.1:c.619-45G>T ENSP00000491088.1:n.619-45G>T
ENST00000638618.1:c.274-45G>T ENSP00000492832.1:n.274-45G>T
ENST00000639277.1:c.619-45G>T ENSP00000492432.1:n.619-45G>T
ENST00000640552.1:n.633-45G>T
ENST00000253408.9:c.619-45G>T ENSP00000253408.4:n.619-45G>T
ENST00000376990.8:c.*18-45G>T ENSP00000366189.4:n.*18-45G>T
ENST00000435360.6:c.619-45G>T ENSP00000403962.1:n.619-45G>T
ENST00000585728.5:c.*263-45G>T ENSP00000465208.1:n.*263-45G>T
ENST00000586127.5:c.-43-45G>T ENSP00000464795.1:n.-43-45G>T
ENST00000586793.5:c.619-45G>T ENSP00000468500.1:n.619-45G>T
ENST00000587997.5:c.95-45G>T
ENST00000588316.1:c.523-45G>T ENSP00000465629.1:n.523-45G>T
ENST00000588735.1:c.82+1930G>T ENSP00000466598.1:n.82+1930G>T
ENST00000588957.5:c.-114-45G>T ENSP00000465565.1:n.-114-45G>T
ENST00000590922.1:n.224G>T
ENST00000591327.1:n.572-45G>T
ENST00000592320.5:c.618+253G>T ENSP00000465320.1:n.618+253G>T
NM_001131019.2:c.619-45G>T NP_001124491.1:n.619-45G>T
NM_001242376.1:c.619-45G>T NP_001229305.1:n.619-45G>T
NM_002055.4:c.619-45G>T NP_002046.1:n.619-45G>T
NM_001363846.1:c.619-45G>T NP_001350775.1:n.619-45G>T
XM_024450690.1:c.823-45G>T XP_024306458.1:n.823-45G>T
XM_024450691.1:c.823-45G>T XP_024306459.1:n.823-45G>T
XM_024450692.1:c.823-45G>T XP_024306460.1:n.823-45G>T
XM_024450693.1:c.823-45G>T XP_024306461.1:n.823-45G>T
NM_002055.5:c.619-45G>T MANE Select NP_002046.1:n.619-45G>T
NM_001131019.3:c.619-45G>T NP_001124491.1:n.619-45G>T
NM_001242376.2:c.619-45G>T NP_001229305.1:n.619-45G>T
NM_001242376.3:c.619-45G>T NP_001229305.1:n.619-45G>T
NM_001363846.2:c.619-45G>T NP_001350775.1:n.619-45G>T