Canonical Allele Identifier: CA8608618

Gene: GFAP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908075G>T , CM000679.2:g.44908075G>T	GRCh38
NC_000017.10:g.42985443G>T , CM000679.1:g.42985443G>T	GRCh37
NC_000017.9:g.40340969G>T	NCBI36
NG_008401.1:g.12472C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1366C>A	ENSP00000253408.5:p.Arg456=
ENST00000253408.10:c.1366C>A	ENSP00000253408.5:p.Arg456=
ENST00000441312.2:n.99C>A
ENST00000585543.6:n.399C>A
ENST00000586125.2:c.181C>A	ENSP00000467397.2:p.Arg61=
ENST00000588735.3:c.1246C>A MANE Select	ENSP00000466598.2:p.Arg416=
ENST00000589701.2:n.2153C>A
ENST00000591880.2:c.345C>A
ENST00000592065.2:n.614C>A
ENST00000638304.1:c.165C>A
ENST00000638400.1:c.81C>A
ENST00000638488.1:n.710C>A
ENST00000638618.1:c.901C>A	ENSP00000492832.1:p.Arg301=
ENST00000638921.1:n.173C>A
ENST00000639042.1:c.218C>A
ENST00000639243.1:c.2C>A
ENST00000639277.1:c.1246C>A	ENSP00000492432.1:p.Arg416=
ENST00000639369.1:c.96C>A
ENST00000640545.1:c.52C>A	ENSP00000491735.1:p.Arg18=
ENST00000640859.1:c.60C>A
ENST00000253408.9:c.1246C>A	ENSP00000253408.4:p.Arg416=
ENST00000585543.5:n.399C>A
ENST00000588735.1:c.124C>A	ENSP00000466598.1:p.Arg42=
ENST00000589701.1:n.148C>A
ENST00000591880.1:c.112C>A	ENSP00000467530.1:p.Arg38=
ENST00000592065.1:n.40C>A
ENST00000592706.5:n.118C>A
NM_002055.4:c.1246C>A	NP_002046.1:p.Arg416=
NM_001363846.1:c.1366C>A	NP_001350775.1:p.Arg456=
XM_024450690.1:c.1570C>A	XP_024306458.1:p.Arg524=
XM_024450692.1:c.1450C>A	XP_024306460.1:p.Arg484=
NM_002055.5:c.1246C>A MANE Select	NP_002046.1:p.Arg416=
NM_001363846.2:c.1366C>A	NP_001350775.1:p.Arg456=