Canonical Allele Identifier: CA217144
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66456
ClinVar RCV Id: RCV000056851 RCV000192188
dbSNP Id: rs267607521
MyVariant Identifiers: chr17:g.42984737T>A (hg19) chr17:g.44907369T>A (hg38)
PubMed: PMID:20301351 PMID:21987397
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44907369T>A , CM000679.2:g.44907369T>A GRCh38
NC_000017.10:g.42984737T>A , CM000679.1:g.42984737T>A GRCh37
NC_000017.9:g.40340263T>A NCBI36
NG_008401.1:g.13178A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1397A>T ENSP00000253408.5:p.Gln466Leu
ENST00000253408.10:c.1397A>T ENSP00000253408.5:p.Gln466Leu
ENST00000441312.2:n.110+695A>T
ENST00000585543.6:n.430A>T
ENST00000586125.2:c.887A>T ENSP00000467397.2:n.887A>T
ENST00000588735.3:c.1277A>T MANE Select ENSP00000466598.2:p.Gln426Leu
ENST00000589701.2:n.2184A>T
ENST00000591880.2:c.1051A>T
ENST00000592065.2:n.625+695A>T
ENST00000638304.1:c.176+695A>T
ENST00000638400.1:c.92+695A>T
ENST00000638488.1:n.721+695A>T
ENST00000638618.1:c.912+695A>T ENSP00000492832.1:n.912+695A>T
ENST00000638921.1:n.879A>T
ENST00000639042.1:c.229+695A>T
ENST00000639243.1:c.13+695A>T
ENST00000639277.1:c.1257+695A>T ENSP00000492432.1:n.1257+695A>T
ENST00000639369.1:c.107+695A>T
ENST00000640545.1:c.63+695A>T ENSP00000491735.1:n.63+695A>T
ENST00000640859.1:c.71+695A>T
ENST00000253408.9:c.1277A>T ENSP00000253408.4:p.Gln426Leu
ENST00000585543.5:n.430A>T
ENST00000588735.1:c.155A>T ENSP00000466598.1:p.Gln52Leu
ENST00000589701.1:n.179A>T
ENST00000592065.1:n.51+695A>T
ENST00000592706.5:n.149A>T
NM_002055.4:c.1277A>T NP_002046.1:p.Gln426Leu
NM_001363846.1:c.1397A>T NP_001350775.1:p.Gln466Leu
XM_024450690.1:c.1601A>T XP_024306458.1:p.Gln534Leu
XM_024450692.1:c.1481A>T XP_024306460.1:p.Gln494Leu
NM_002055.5:c.1277A>T MANE Select NP_002046.1:p.Gln426Leu
NM_001363846.2:c.1397A>T NP_001350775.1:p.Gln466Leu
Search 100 bp 5'
Search 100 bp 3'