Canonical Allele Identifier: CA399839223

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985517T>A (hg19) ; chr17:g.44908149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908149T>A , CM000679.2:g.44908149T>A	GRCh38
NC_000017.10:g.42985517T>A , CM000679.1:g.42985517T>A	GRCh37
NC_000017.9:g.40341043T>A	NCBI36
NG_008401.1:g.12398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292A>T	ENSP00000253408.5:p.Glu431Val
ENST00000253408.10:c.1292A>T	ENSP00000253408.5:p.Glu431Val
ENST00000441312.2:n.25A>T
ENST00000585543.6:n.325A>T
ENST00000586125.2:c.107A>T	ENSP00000467397.2:p.Glu36Val
ENST00000588735.3:c.1172A>T MANE Select	ENSP00000466598.2:p.Glu391Val
ENST00000589701.2:n.2079A>T
ENST00000591880.2:c.271A>T
ENST00000592065.2:n.540A>T
ENST00000638304.1:c.91A>T
ENST00000638400.1:c.7A>T
ENST00000638488.1:n.636A>T
ENST00000638618.1:c.827A>T	ENSP00000492832.1:p.Glu276Val
ENST00000638921.1:n.99A>T
ENST00000639042.1:c.144A>T
ENST00000639277.1:c.1172A>T	ENSP00000492432.1:p.Glu391Val
ENST00000639369.1:c.22A>T
ENST00000253408.9:c.1172A>T	ENSP00000253408.4:p.Glu391Val
ENST00000585543.5:n.325A>T
ENST00000586125.1:c.143A>T	ENSP00000467397.1:p.Glu48Val
ENST00000588640.5:n.552A>T
ENST00000588735.1:c.83-33A>T	ENSP00000466598.1:n.83-33A>T
ENST00000589701.1:n.74A>T
ENST00000591880.1:c.38A>T	ENSP00000467530.1:p.Glu13Val
ENST00000592706.5:n.44A>T
NM_002055.4:c.1172A>T	NP_002046.1:p.Glu391Val
NM_001363846.1:c.1292A>T	NP_001350775.1:p.Glu431Val
XM_024450690.1:c.1496A>T	XP_024306458.1:p.Glu499Val
XM_024450692.1:c.1376A>T	XP_024306460.1:p.Glu459Val
NM_002055.5:c.1172A>T MANE Select	NP_002046.1:p.Glu391Val
NM_001363846.2:c.1292A>T	NP_001350775.1:p.Glu431Val