Canonical Allele Identifier: CA217109
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66433
ClinVar RCV Id: RCV000056827 RCV000192166
dbSNP Id: rs267607503
MyVariant Identifiers: chr17:g.42988640G>A (hg19) chr17:g.44911272G>A (hg38)
PubMed: PMID:17985264 PMID:20301351
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911272G>A , CM000679.2:g.44911272G>A GRCh38
NC_000017.10:g.42988640G>A , CM000679.1:g.42988640G>A GRCh37
NC_000017.9:g.40344166G>A NCBI36
NG_008401.1:g.9275C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1091C>T ENSP00000253408.5:p.Ala364Val
ENST00000435360.8:c.1091C>T ENSP00000403962.1:p.Ala364Val
ENST00000253408.10:c.1091C>T ENSP00000253408.5:p.Ala364Val
ENST00000435360.7:c.1091C>T ENSP00000403962.1:p.Ala364Val
ENST00000585543.6:n.244C>T
ENST00000586125.2:c.26C>T ENSP00000467397.2:p.Ala9Val
ENST00000586127.6:n.1620C>T
ENST00000586793.6:c.956C>T ENSP00000468500.2:p.Ala319Val
ENST00000587997.6:n.567C>T
ENST00000588735.3:c.1091C>T MANE Select ENSP00000466598.2:p.Ala364Val
ENST00000591327.2:n.2245C>T
ENST00000591880.2:c.21C>T
ENST00000592320.6:c.668C>T ENSP00000465320.1:p.Ala223Val
ENST00000638281.1:c.1091C>T ENSP00000491088.1:p.Ala364Val
ENST00000638304.1:c.10C>T
ENST00000638488.1:n.32C>T
ENST00000638618.1:c.746C>T ENSP00000492832.1:p.Ala249Val
ENST00000639042.1:c.28C>T
ENST00000639277.1:c.1091C>T ENSP00000492432.1:p.Ala364Val
ENST00000639921.1:c.48C>T
ENST00000640552.1:n.1105C>T
ENST00000253408.9:c.1091C>T ENSP00000253408.4:p.Ala364Val
ENST00000435360.6:c.1091C>T ENSP00000403962.1:p.Ala364Val
ENST00000585543.5:n.244C>T
ENST00000586793.5:c.1091C>T ENSP00000468500.1:p.Ala364Val
ENST00000587997.5:c.567C>T
ENST00000588640.5:n.471C>T
ENST00000588735.1:c.83-3156C>T ENSP00000466598.1:n.83-3156C>T
ENST00000592320.5:c.668C>T ENSP00000465320.1:p.Ala223Val
NM_001131019.2:c.1091C>T NP_001124491.1:p.Ala364Val
NM_001242376.1:c.1091C>T NP_001229305.1:p.Ala364Val
NM_002055.4:c.1091C>T NP_002046.1:p.Ala364Val
NM_001363846.1:c.1091C>T NP_001350775.1:p.Ala364Val
XM_024450690.1:c.1295C>T XP_024306458.1:p.Ala432Val
XM_024450691.1:c.1295C>T XP_024306459.1:p.Ala432Val
XM_024450692.1:c.1295C>T XP_024306460.1:p.Ala432Val
XM_024450693.1:c.1295C>T XP_024306461.1:p.Ala432Val
NM_002055.5:c.1091C>T MANE Select NP_002046.1:p.Ala364Val
NM_001131019.3:c.1091C>T NP_001124491.1:p.Ala364Val
NM_001242376.2:c.1091C>T NP_001229305.1:p.Ala364Val
NM_001242376.3:c.1091C>T NP_001229305.1:p.Ala364Val
NM_001363846.2:c.1091C>T NP_001350775.1:p.Ala364Val
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