Canonical Allele Identifier: CA217136
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66452
ClinVar RCV Id: RCV000056846 RCV000192182
dbSNP Id: rs62635764
MyVariant Identifiers: chr17:g.42985511C>A (hg19) chr17:g.44908143C>A (hg38)
PubMed: PMID:17703343 PMID:18388212 PMID:18684770 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44908143C>A , CM000679.2:g.44908143C>A GRCh38
NC_000017.10:g.42985511C>A , CM000679.1:g.42985511C>A GRCh37
NC_000017.9:g.40341037C>A NCBI36
NG_008401.1:g.12404G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1298G>T ENSP00000253408.5:p.Ser433Ile
ENST00000253408.10:c.1298G>T ENSP00000253408.5:p.Ser433Ile
ENST00000441312.2:n.31G>T
ENST00000585543.6:n.331G>T
ENST00000586125.2:c.113G>T ENSP00000467397.2:p.Ser38Ile
ENST00000588735.3:c.1178G>T MANE Select ENSP00000466598.2:p.Ser393Ile
ENST00000589701.2:n.2085G>T
ENST00000591880.2:c.277G>T
ENST00000592065.2:n.546G>T
ENST00000638304.1:c.97G>T
ENST00000638400.1:c.13G>T
ENST00000638488.1:n.642G>T
ENST00000638618.1:c.833G>T ENSP00000492832.1:p.Ser278Ile
ENST00000638921.1:n.105G>T
ENST00000639042.1:c.150G>T
ENST00000639277.1:c.1178G>T ENSP00000492432.1:p.Ser393Ile
ENST00000639369.1:c.28G>T
ENST00000253408.9:c.1178G>T ENSP00000253408.4:p.Ser393Ile
ENST00000585543.5:n.331G>T
ENST00000586125.1:c.149G>T ENSP00000467397.1:p.Ser50Ile
ENST00000588640.5:n.558G>T
ENST00000588735.1:c.83-27G>T ENSP00000466598.1:n.83-27G>T
ENST00000589701.1:n.80G>T
ENST00000591880.1:c.44G>T ENSP00000467530.1:p.Ser15Ile
ENST00000592706.5:n.50G>T
NM_002055.4:c.1178G>T NP_002046.1:p.Ser393Ile
NM_001363846.1:c.1298G>T NP_001350775.1:p.Ser433Ile
XM_024450690.1:c.1502G>T XP_024306458.1:p.Ser501Ile
XM_024450692.1:c.1382G>T XP_024306460.1:p.Ser461Ile
NM_002055.5:c.1178G>T MANE Select NP_002046.1:p.Ser393Ile
NM_001363846.2:c.1298G>T NP_001350775.1:p.Ser433Ile
Search 100 bp 5'
Search 100 bp 3'