Canonical Allele Identifier: CA8608565

Gene: GFAP

Linked Data

• ClinVar Variation Id: 323608
• ClinVar RCV Id: RCV000391646 ; RCV000675410
• dbSNP Id: rs113487550
• ExAC: 17:42984699 C / T
• gnomAD v2: 17-42984699-C-T
• gnomAD v3: 17-44907331-C-T
• gnomAD v4: 17-44907331-C-T
• MyVariant Identifiers: chr17:g.42984699C>T (hg19) ; chr17:g.44907331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907331C>T , CM000679.2:g.44907331C>T	GRCh38
NC_000017.10:g.42984699C>T , CM000679.1:g.42984699C>T	GRCh37
NC_000017.9:g.40340225C>T	NCBI36
NG_008401.1:g.13216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.*16G>A	ENSP00000253408.5:n.*16G>A
ENST00000253408.10:c.*16G>A	ENSP00000253408.5:n.*16G>A
ENST00000441312.2:n.110+733G>A
ENST00000585543.6:n.468G>A
ENST00000586125.2:c.925G>A	ENSP00000467397.2:n.925G>A
ENST00000588735.3:c.*16G>A MANE Select	ENSP00000466598.2:n.*16G>A
ENST00000589701.2:n.2222G>A
ENST00000591880.2:c.1089G>A
ENST00000592065.2:n.625+733G>A
ENST00000638304.1:c.176+733G>A
ENST00000638400.1:c.92+733G>A
ENST00000638488.1:n.721+733G>A
ENST00000638618.1:c.912+733G>A	ENSP00000492832.1:n.912+733G>A
ENST00000638921.1:n.917G>A
ENST00000639042.1:c.229+733G>A
ENST00000639243.1:c.13+733G>A
ENST00000639277.1:c.1257+733G>A	ENSP00000492432.1:n.1257+733G>A
ENST00000639369.1:c.107+733G>A
ENST00000640545.1:c.63+733G>A	ENSP00000491735.1:n.63+733G>A
ENST00000640859.1:c.71+733G>A
ENST00000253408.9:c.*16G>A	ENSP00000253408.4:n.*16G>A
ENST00000585543.5:n.468G>A
ENST00000588735.1:c.*16G>A	ENSP00000466598.1:n.*16G>A
ENST00000589701.1:n.217G>A
ENST00000592065.1:n.51+733G>A
ENST00000592706.5:n.187G>A
NM_002055.4:c.*16G>A	NP_002046.1:n.*16G>A
NM_001363846.1:c.*16G>A	NP_001350775.1:n.*16G>A
XM_024450690.1:c.*16G>A	XP_024306458.1:n.*16G>A
XM_024450692.1:c.*16G>A	XP_024306460.1:n.*16G>A
NM_002055.5:c.*16G>A MANE Select	NP_002046.1:n.*16G>A
NM_001363846.2:c.*16G>A	NP_001350775.1:n.*16G>A