Canonical Allele Identifier: CA399839056

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985487T>A (hg19) ; chr17:g.44908119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908119T>A , CM000679.2:g.44908119T>A	GRCh38
NC_000017.10:g.42985487T>A , CM000679.1:g.42985487T>A	GRCh37
NC_000017.9:g.40341013T>A	NCBI36
NG_008401.1:g.12428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1322A>T	ENSP00000253408.5:p.Glu441Val
ENST00000253408.10:c.1322A>T	ENSP00000253408.5:p.Glu441Val
ENST00000441312.2:n.55A>T
ENST00000585543.6:n.355A>T
ENST00000586125.2:c.137A>T	ENSP00000467397.2:p.Glu46Val
ENST00000588735.3:c.1202A>T MANE Select	ENSP00000466598.2:p.Glu401Val
ENST00000589701.2:n.2109A>T
ENST00000591880.2:c.301A>T
ENST00000592065.2:n.570A>T
ENST00000638304.1:c.121A>T
ENST00000638400.1:c.37A>T
ENST00000638488.1:n.666A>T
ENST00000638618.1:c.857A>T	ENSP00000492832.1:p.Glu286Val
ENST00000638921.1:n.129A>T
ENST00000639042.1:c.174A>T
ENST00000639277.1:c.1202A>T	ENSP00000492432.1:p.Glu401Val
ENST00000639369.1:c.52A>T
ENST00000640545.1:c.8A>T	ENSP00000491735.1:p.Glu3Val
ENST00000640859.1:c.16A>T
ENST00000253408.9:c.1202A>T	ENSP00000253408.4:p.Glu401Val
ENST00000585543.5:n.355A>T
ENST00000586125.1:c.173A>T	ENSP00000467397.1:p.Glu58Val
ENST00000588735.1:c.83-3A>T	ENSP00000466598.1:n.83-3A>T
ENST00000589701.1:n.104A>T
ENST00000591880.1:c.68A>T	ENSP00000467530.1:p.Glu23Val
ENST00000592706.5:n.74A>T
NM_002055.4:c.1202A>T	NP_002046.1:p.Glu401Val
NM_001363846.1:c.1322A>T	NP_001350775.1:p.Glu441Val
XM_024450690.1:c.1526A>T	XP_024306458.1:p.Glu509Val
XM_024450692.1:c.1406A>T	XP_024306460.1:p.Glu469Val
NM_002055.5:c.1202A>T MANE Select	NP_002046.1:p.Glu401Val
NM_001363846.2:c.1322A>T	NP_001350775.1:p.Glu441Val