Canonical Allele Identifier: CA399838826

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985447C>A (hg19) ; chr17:g.44908079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908079C>A , CM000679.2:g.44908079C>A	GRCh38
NC_000017.10:g.42985447C>A , CM000679.1:g.42985447C>A	GRCh37
NC_000017.9:g.40340973C>A	NCBI36
NG_008401.1:g.12468G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1362G>T	ENSP00000253408.5:p.Glu454Asp
ENST00000253408.10:c.1362G>T	ENSP00000253408.5:p.Glu454Asp
ENST00000441312.2:n.95G>T
ENST00000585543.6:n.395G>T
ENST00000586125.2:c.177G>T	ENSP00000467397.2:p.Glu59Asp
ENST00000588735.3:c.1242G>T MANE Select	ENSP00000466598.2:p.Glu414Asp
ENST00000589701.2:n.2149G>T
ENST00000591880.2:c.341G>T
ENST00000592065.2:n.610G>T
ENST00000638304.1:c.161G>T
ENST00000638400.1:c.77G>T
ENST00000638488.1:n.706G>T
ENST00000638618.1:c.897G>T	ENSP00000492832.1:p.Glu299Asp
ENST00000638921.1:n.169G>T
ENST00000639042.1:c.214G>T
ENST00000639277.1:c.1242G>T	ENSP00000492432.1:p.Glu414Asp
ENST00000639369.1:c.92G>T
ENST00000640545.1:c.48G>T	ENSP00000491735.1:p.Glu16Asp
ENST00000640859.1:c.56G>T
ENST00000253408.9:c.1242G>T	ENSP00000253408.4:p.Glu414Asp
ENST00000585543.5:n.395G>T
ENST00000588735.1:c.120G>T	ENSP00000466598.1:p.Glu40Asp
ENST00000589701.1:n.144G>T
ENST00000591880.1:c.108G>T	ENSP00000467530.1:p.Glu36Asp
ENST00000592065.1:n.36G>T
ENST00000592706.5:n.114G>T
NM_002055.4:c.1242G>T	NP_002046.1:p.Glu414Asp
NM_001363846.1:c.1362G>T	NP_001350775.1:p.Glu454Asp
XM_024450690.1:c.1566G>T	XP_024306458.1:p.Glu522Asp
XM_024450692.1:c.1446G>T	XP_024306460.1:p.Glu482Asp
NM_002055.5:c.1242G>T MANE Select	NP_002046.1:p.Glu414Asp
NM_001363846.2:c.1362G>T	NP_001350775.1:p.Glu454Asp