Canonical Allele Identifier: CA217100
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 16178
ClinVar RCV Id: RCV000017561 RCV000056820
dbSNP Id: rs28932769
MyVariant Identifiers: chr17:g.42988676A>G (hg19) chr17:g.44911308A>G (hg38)
PubMed: PMID:14557587 PMID:15732097 PMID:19418047 PMID:20301351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911308A>G , CM000679.2:g.44911308A>G GRCh38
NC_000017.10:g.42988676A>G , CM000679.1:g.42988676A>G GRCh37
NC_000017.9:g.40344202A>G NCBI36
NG_008401.1:g.9239T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1055T>C ENSP00000253408.5:p.Leu352Pro
ENST00000435360.8:c.1055T>C ENSP00000403962.1:p.Leu352Pro
ENST00000253408.10:c.1055T>C ENSP00000253408.5:p.Leu352Pro
ENST00000435360.7:c.1055T>C ENSP00000403962.1:p.Leu352Pro
ENST00000585543.6:n.208T>C
ENST00000586127.6:n.1584T>C
ENST00000586793.6:c.920T>C ENSP00000468500.2:p.Leu307Pro
ENST00000587997.6:n.531T>C
ENST00000588735.3:c.1055T>C MANE Select ENSP00000466598.2:p.Leu352Pro
ENST00000591327.2:n.2209T>C
ENST00000592320.6:c.632T>C ENSP00000465320.1:p.Leu211Pro
ENST00000638281.1:c.1055T>C ENSP00000491088.1:p.Leu352Pro
ENST00000638618.1:c.710T>C ENSP00000492832.1:p.Leu237Pro
ENST00000639277.1:c.1055T>C ENSP00000492432.1:p.Leu352Pro
ENST00000639921.1:c.12T>C
ENST00000640552.1:n.1069T>C
ENST00000253408.9:c.1055T>C ENSP00000253408.4:p.Leu352Pro
ENST00000376990.8:c.*454T>C ENSP00000366189.4:n.*454T>C
ENST00000435360.6:c.1055T>C ENSP00000403962.1:p.Leu352Pro
ENST00000585543.5:n.208T>C
ENST00000586793.5:c.1055T>C ENSP00000468500.1:p.Leu352Pro
ENST00000587997.5:c.531T>C
ENST00000588640.5:n.435T>C
ENST00000588735.1:c.83-3192T>C ENSP00000466598.1:n.83-3192T>C
ENST00000592320.5:c.632T>C ENSP00000465320.1:p.Leu211Pro
NM_001131019.2:c.1055T>C NP_001124491.1:p.Leu352Pro
NM_001242376.1:c.1055T>C NP_001229305.1:p.Leu352Pro
NM_002055.4:c.1055T>C NP_002046.1:p.Leu352Pro
NM_001363846.1:c.1055T>C NP_001350775.1:p.Leu352Pro
XM_024450690.1:c.1259T>C XP_024306458.1:p.Leu420Pro
XM_024450691.1:c.1259T>C XP_024306459.1:p.Leu420Pro
XM_024450692.1:c.1259T>C XP_024306460.1:p.Leu420Pro
XM_024450693.1:c.1259T>C XP_024306461.1:p.Leu420Pro
NM_002055.5:c.1055T>C MANE Select NP_002046.1:p.Leu352Pro
NM_001131019.3:c.1055T>C NP_001124491.1:p.Leu352Pro
NM_001242376.2:c.1055T>C NP_001229305.1:p.Leu352Pro
NM_001242376.3:c.1055T>C NP_001229305.1:p.Leu352Pro
NM_001363846.2:c.1055T>C NP_001350775.1:p.Leu352Pro
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