Canonical Allele Identifier: CA347241
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 190368
ClinVar RCV Id: RCV000192191
dbSNP Id: rs112611995
MyVariant Identifiers: chr17:g.42990801G>C (hg19) chr17:g.44913433G>C (hg38)
PubMed: PMID:20301351 PMID:22488673
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913433G>C , CM000679.2:g.44913433G>C GRCh38
NC_000017.10:g.42990801G>C , CM000679.1:g.42990801G>C GRCh37
NC_000017.9:g.40346327G>C NCBI36
NG_008401.1:g.7114C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.619-3C>G ENSP00000253408.5:n.619-3C>G
ENST00000435360.8:c.619-3C>G ENSP00000403962.1:n.619-3C>G
ENST00000253408.10:c.619-3C>G ENSP00000253408.5:n.619-3C>G
ENST00000435360.7:c.619-3C>G ENSP00000403962.1:n.619-3C>G
ENST00000586127.6:n.1148-3C>G
ENST00000586793.6:c.619-3C>G ENSP00000468500.2:n.619-3C>G
ENST00000587997.6:n.95-3C>G
ENST00000588735.3:c.619-3C>G MANE Select ENSP00000466598.2:n.619-3C>G
ENST00000591327.2:n.1773-3C>G
ENST00000592320.6:c.618+295C>G ENSP00000465320.1:n.618+295C>G
ENST00000638281.1:c.619-3C>G ENSP00000491088.1:n.619-3C>G
ENST00000638618.1:c.274-3C>G ENSP00000492832.1:n.274-3C>G
ENST00000639277.1:c.619-3C>G ENSP00000492432.1:n.619-3C>G
ENST00000640552.1:n.633-3C>G
ENST00000253408.9:c.619-3C>G ENSP00000253408.4:n.619-3C>G
ENST00000376990.8:c.*18-3C>G ENSP00000366189.4:n.*18-3C>G
ENST00000435360.6:c.619-3C>G ENSP00000403962.1:n.619-3C>G
ENST00000585728.5:c.*263-3C>G ENSP00000465208.1:n.*263-3C>G
ENST00000586127.5:c.-43-3C>G ENSP00000464795.1:n.-43-3C>G
ENST00000586793.5:c.619-3C>G ENSP00000468500.1:n.619-3C>G
ENST00000587997.5:c.95-3C>G
ENST00000588316.1:c.523-3C>G ENSP00000465629.1:n.523-3C>G
ENST00000588735.1:c.82+1972C>G ENSP00000466598.1:n.82+1972C>G
ENST00000588957.5:c.-114-3C>G ENSP00000465565.1:n.-114-3C>G
ENST00000590922.1:n.266C>G
ENST00000591327.1:n.572-3C>G
ENST00000592320.5:c.618+295C>G ENSP00000465320.1:n.618+295C>G
NM_001131019.2:c.619-3C>G NP_001124491.1:n.619-3C>G
NM_001242376.1:c.619-3C>G NP_001229305.1:n.619-3C>G
NM_002055.4:c.619-3C>G NP_002046.1:n.619-3C>G
NM_001363846.1:c.619-3C>G NP_001350775.1:n.619-3C>G
XM_024450690.1:c.823-3C>G XP_024306458.1:n.823-3C>G
XM_024450691.1:c.823-3C>G XP_024306459.1:n.823-3C>G
XM_024450692.1:c.823-3C>G XP_024306460.1:n.823-3C>G
XM_024450693.1:c.823-3C>G XP_024306461.1:n.823-3C>G
NM_002055.5:c.619-3C>G MANE Select NP_002046.1:n.619-3C>G
NM_001131019.3:c.619-3C>G NP_001124491.1:n.619-3C>G
NM_001242376.2:c.619-3C>G NP_001229305.1:n.619-3C>G
NM_001242376.3:c.619-3C>G NP_001229305.1:n.619-3C>G
NM_001363846.2:c.619-3C>G NP_001350775.1:n.619-3C>G
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