Canonical Allele Identifier: CA217162
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66468
ClinVar RCV Id: RCV000056865 RCV000192107
dbSNP Id: rs57590980
MyVariant Identifiers: chr17:g.42992625T>C (hg19) chr17:g.44915257T>C (hg38)
PubMed: PMID:15732097 PMID:17894839 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915257T>C , CM000679.2:g.44915257T>C GRCh38
NC_000017.10:g.42992625T>C , CM000679.1:g.42992625T>C GRCh37
NC_000017.9:g.40348151T>C NCBI36
NG_008401.1:g.5290A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.230A>G ENSP00000253408.5:p.Asn77Ser
ENST00000435360.8:c.230A>G ENSP00000403962.1:p.Asn77Ser
ENST00000253408.10:c.230A>G ENSP00000253408.5:p.Asn77Ser
ENST00000435360.7:c.230A>G ENSP00000403962.1:p.Asn77Ser
ENST00000586793.6:c.230A>G ENSP00000468500.2:p.Asn77Ser
ENST00000588735.3:c.230A>G MANE Select ENSP00000466598.2:p.Asn77Ser
ENST00000591327.2:n.243A>G
ENST00000592320.6:c.230A>G ENSP00000465320.1:p.Asn77Ser
ENST00000638281.1:c.230A>G ENSP00000491088.1:p.Asn77Ser
ENST00000639277.1:c.230A>G ENSP00000492432.1:p.Asn77Ser
ENST00000640552.1:n.244A>G
ENST00000253408.9:c.230A>G ENSP00000253408.4:p.Asn77Ser
ENST00000376990.8:c.230A>G ENSP00000366189.4:p.Asn77Ser
ENST00000435360.6:c.230A>G ENSP00000403962.1:p.Asn77Ser
ENST00000585728.5:c.181+49A>G ENSP00000465208.1:n.181+49A>G
ENST00000586793.5:c.230A>G ENSP00000468500.1:p.Asn77Ser
ENST00000588037.1:c.230A>G ENSP00000466163.1:p.Asn77Ser
ENST00000588316.1:c.230A>G ENSP00000465629.1:p.Asn77Ser
ENST00000588735.1:c.82+148A>G ENSP00000466598.1:n.82+148A>G
ENST00000588957.5:c.-272+560A>G ENSP00000465565.1:n.-272+560A>G
ENST00000591327.1:n.244A>G
ENST00000592320.5:c.230A>G ENSP00000465320.1:p.Asn77Ser
NM_001131019.2:c.230A>G NP_001124491.1:p.Asn77Ser
NM_001242376.1:c.230A>G NP_001229305.1:p.Asn77Ser
NM_002055.4:c.230A>G NP_002046.1:p.Asn77Ser
NM_001363846.1:c.230A>G NP_001350775.1:p.Asn77Ser
XM_024450690.1:c.230A>G XP_024306458.1:p.Asn77Ser
XM_024450691.1:c.230A>G XP_024306459.1:p.Asn77Ser
XM_024450692.1:c.230A>G XP_024306460.1:p.Asn77Ser
XM_024450693.1:c.230A>G XP_024306461.1:p.Asn77Ser
NM_002055.5:c.230A>G MANE Select NP_002046.1:p.Asn77Ser
NM_001131019.3:c.230A>G NP_001124491.1:p.Asn77Ser
NM_001242376.2:c.230A>G NP_001229305.1:p.Asn77Ser
NM_001242376.3:c.230A>G NP_001229305.1:p.Asn77Ser
NM_001363846.2:c.230A>G NP_001350775.1:p.Asn77Ser
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