Canonical Allele Identifier: CA2838565141
Gene: GFAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911523C>G , CM000679.2:g.44911523C>G GRCh38
NC_000017.10:g.42988891C>G , CM000679.1:g.42988891C>G GRCh37
NC_000017.9:g.40344417C>G NCBI36
NG_008401.1:g.9024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.907-67G>C ENSP00000253408.5:n.907-67G>C
ENST00000435360.8:c.907-67G>C ENSP00000403962.1:n.907-67G>C
ENST00000253408.10:c.907-67G>C ENSP00000253408.5:n.907-67G>C
ENST00000435360.7:c.907-67G>C ENSP00000403962.1:n.907-67G>C
ENST00000586127.6:n.1436-67G>C
ENST00000586793.6:c.906+149G>C ENSP00000468500.2:n.906+149G>C
ENST00000587997.6:n.383-67G>C
ENST00000588735.3:c.907-67G>C MANE Select ENSP00000466598.2:n.907-67G>C
ENST00000591327.2:n.2061-67G>C
ENST00000592320.6:c.619-202G>C ENSP00000465320.1:n.619-202G>C
ENST00000638281.1:c.907-67G>C ENSP00000491088.1:n.907-67G>C
ENST00000638618.1:c.562-67G>C ENSP00000492832.1:n.562-67G>C
ENST00000639277.1:c.907-67G>C ENSP00000492432.1:n.907-67G>C
ENST00000640552.1:n.921-67G>C
ENST00000253408.9:c.907-67G>C ENSP00000253408.4:n.907-67G>C
ENST00000376990.8:c.*306-67G>C ENSP00000366189.4:n.*306-67G>C
ENST00000435360.6:c.907-67G>C ENSP00000403962.1:n.907-67G>C
ENST00000586793.5:c.907-67G>C ENSP00000468500.1:n.907-67G>C
ENST00000587997.5:c.383-67G>C
ENST00000588640.5:n.287-67G>C
ENST00000588735.1:c.83-3407G>C ENSP00000466598.1:n.83-3407G>C
ENST00000591719.5:n.541-67G>C
ENST00000592320.5:c.619-202G>C ENSP00000465320.1:n.619-202G>C
NM_001131019.2:c.907-67G>C NP_001124491.1:n.907-67G>C
NM_001242376.1:c.907-67G>C NP_001229305.1:n.907-67G>C
NM_002055.4:c.907-67G>C NP_002046.1:n.907-67G>C
NM_001363846.1:c.907-67G>C NP_001350775.1:n.907-67G>C
XM_024450690.1:c.1111-67G>C XP_024306458.1:n.1111-67G>C
XM_024450691.1:c.1111-67G>C XP_024306459.1:n.1111-67G>C
XM_024450692.1:c.1111-67G>C XP_024306460.1:n.1111-67G>C
XM_024450693.1:c.1111-67G>C XP_024306461.1:n.1111-67G>C
NM_002055.5:c.907-67G>C MANE Select NP_002046.1:n.907-67G>C
NM_001131019.3:c.907-67G>C NP_001124491.1:n.907-67G>C
NM_001242376.2:c.907-67G>C NP_001229305.1:n.907-67G>C
NM_001242376.3:c.907-67G>C NP_001229305.1:n.907-67G>C
NM_001363846.2:c.907-67G>C NP_001350775.1:n.907-67G>C