Canonical Allele Identifier: CA217207
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66496
ClinVar RCV Id: RCV000056897 RCV000192134
dbSNP Id: rs267607525
MyVariant Identifiers: chr17:g.42990710T>G (hg19) chr17:g.44913342T>G (hg38)
PubMed: PMID:20301351 PMID:21917775
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913342T>G , CM000679.2:g.44913342T>G GRCh38
NC_000017.10:g.42990710T>G , CM000679.1:g.42990710T>G GRCh37
NC_000017.9:g.40346236T>G NCBI36
NG_008401.1:g.7205A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.707A>C ENSP00000253408.5:p.Lys236Thr
ENST00000435360.8:c.707A>C ENSP00000403962.1:p.Lys236Thr
ENST00000253408.10:c.707A>C ENSP00000253408.5:p.Lys236Thr
ENST00000435360.7:c.707A>C ENSP00000403962.1:p.Lys236Thr
ENST00000586127.6:n.1236A>C
ENST00000586793.6:c.707A>C ENSP00000468500.2:p.Lys236Thr
ENST00000587997.6:n.183A>C
ENST00000588735.3:c.707A>C MANE Select ENSP00000466598.2:p.Lys236Thr
ENST00000591327.2:n.1861A>C
ENST00000592320.6:c.618+386A>C ENSP00000465320.1:n.618+386A>C
ENST00000638281.1:c.707A>C ENSP00000491088.1:p.Lys236Thr
ENST00000638618.1:c.362A>C ENSP00000492832.1:p.Lys121Thr
ENST00000639277.1:c.707A>C ENSP00000492432.1:p.Lys236Thr
ENST00000640552.1:n.721A>C
ENST00000253408.9:c.707A>C ENSP00000253408.4:p.Lys236Thr
ENST00000376990.8:c.*106A>C ENSP00000366189.4:n.*106A>C
ENST00000435360.6:c.707A>C ENSP00000403962.1:p.Lys236Thr
ENST00000585728.5:c.*351A>C ENSP00000465208.1:n.*351A>C
ENST00000586793.5:c.707A>C ENSP00000468500.1:p.Lys236Thr
ENST00000587997.5:c.183A>C
ENST00000588316.1:c.611A>C ENSP00000465629.1:p.Lys204Thr
ENST00000588735.1:c.82+2063A>C ENSP00000466598.1:n.82+2063A>C
ENST00000588957.5:c.-26A>C ENSP00000465565.1:n.-26A>C
ENST00000590922.1:n.357A>C
ENST00000592320.5:c.618+386A>C ENSP00000465320.1:n.618+386A>C
NM_001131019.2:c.707A>C NP_001124491.1:p.Lys236Thr
NM_001242376.1:c.707A>C NP_001229305.1:p.Lys236Thr
NM_002055.4:c.707A>C NP_002046.1:p.Lys236Thr
NM_001363846.1:c.707A>C NP_001350775.1:p.Lys236Thr
XM_024450690.1:c.911A>C XP_024306458.1:p.Lys304Thr
XM_024450691.1:c.911A>C XP_024306459.1:p.Lys304Thr
XM_024450692.1:c.911A>C XP_024306460.1:p.Lys304Thr
XM_024450693.1:c.911A>C XP_024306461.1:p.Lys304Thr
NM_002055.5:c.707A>C MANE Select NP_002046.1:p.Lys236Thr
NM_001131019.3:c.707A>C NP_001124491.1:p.Lys236Thr
NM_001242376.2:c.707A>C NP_001229305.1:p.Lys236Thr
NM_001242376.3:c.707A>C NP_001229305.1:p.Lys236Thr
NM_001363846.2:c.707A>C NP_001350775.1:p.Lys236Thr
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