Canonical Allele Identifier: CA2261610256

Gene: GFAP

Linked Data

• dbSNP Id: rs757760536

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908139C>A , CM000679.2:g.44908139C>A	GRCh38
NC_000017.10:g.42985507C>A , CM000679.1:g.42985507C>A	GRCh37
NC_000017.9:g.40341033C>A	NCBI36
NG_008401.1:g.12408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1302G>T	ENSP00000253408.5:p.Leu434=
ENST00000253408.10:c.1302G>T	ENSP00000253408.5:p.Leu434=
ENST00000441312.2:n.35G>T
ENST00000585543.6:n.335G>T
ENST00000586125.2:c.117G>T	ENSP00000467397.2:p.Leu39=
ENST00000588735.3:c.1182G>T MANE Select	ENSP00000466598.2:p.Leu394=
ENST00000589701.2:n.2089G>T
ENST00000591880.2:c.281G>T
ENST00000592065.2:n.550G>T
ENST00000638304.1:c.101G>T
ENST00000638400.1:c.17G>T
ENST00000638488.1:n.646G>T
ENST00000638618.1:c.837G>T	ENSP00000492832.1:p.Leu279=
ENST00000638921.1:n.109G>T
ENST00000639042.1:c.154G>T
ENST00000639277.1:c.1182G>T	ENSP00000492432.1:p.Leu394=
ENST00000639369.1:c.32G>T
ENST00000253408.9:c.1182G>T	ENSP00000253408.4:p.Leu394=
ENST00000585543.5:n.335G>T
ENST00000586125.1:c.153G>T	ENSP00000467397.1:p.Leu51=
ENST00000588640.5:n.562G>T
ENST00000588735.1:c.83-23G>T	ENSP00000466598.1:n.83-23G>T
ENST00000589701.1:n.84G>T
ENST00000591880.1:c.48G>T	ENSP00000467530.1:p.Leu16=
ENST00000592706.5:n.54G>T
NM_002055.4:c.1182G>T	NP_002046.1:p.Leu394=
NM_001363846.1:c.1302G>T	NP_001350775.1:p.Leu434=
XM_024450690.1:c.1506G>T	XP_024306458.1:p.Leu502=
XM_024450692.1:c.1386G>T	XP_024306460.1:p.Leu462=
NM_002055.5:c.1182G>T MANE Select	NP_002046.1:p.Leu394=
NM_001363846.2:c.1302G>T	NP_001350775.1:p.Leu434=