Canonical Allele Identifier: CA399839061

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985488C>G (hg19) ; chr17:g.44908120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908120C>G , CM000679.2:g.44908120C>G	GRCh38
NC_000017.10:g.42985488C>G , CM000679.1:g.42985488C>G	GRCh37
NC_000017.9:g.40341014C>G	NCBI36
NG_008401.1:g.12427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1321G>C	ENSP00000253408.5:p.Glu441Gln
ENST00000253408.10:c.1321G>C	ENSP00000253408.5:p.Glu441Gln
ENST00000441312.2:n.54G>C
ENST00000585543.6:n.354G>C
ENST00000586125.2:c.136G>C	ENSP00000467397.2:p.Glu46Gln
ENST00000588735.3:c.1201G>C MANE Select	ENSP00000466598.2:p.Glu401Gln
ENST00000589701.2:n.2108G>C
ENST00000591880.2:c.300G>C
ENST00000592065.2:n.569G>C
ENST00000638304.1:c.120G>C
ENST00000638400.1:c.36G>C
ENST00000638488.1:n.665G>C
ENST00000638618.1:c.856G>C	ENSP00000492832.1:p.Glu286Gln
ENST00000638921.1:n.128G>C
ENST00000639042.1:c.173G>C
ENST00000639277.1:c.1201G>C	ENSP00000492432.1:p.Glu401Gln
ENST00000639369.1:c.51G>C
ENST00000640545.1:c.7G>C	ENSP00000491735.1:p.Glu3Gln
ENST00000640859.1:c.15G>C
ENST00000253408.9:c.1201G>C	ENSP00000253408.4:p.Glu401Gln
ENST00000585543.5:n.354G>C
ENST00000586125.1:c.172G>C	ENSP00000467397.1:p.Glu58Gln
ENST00000588735.1:c.83-4G>C	ENSP00000466598.1:n.83-4G>C
ENST00000589701.1:n.103G>C
ENST00000591880.1:c.67G>C	ENSP00000467530.1:p.Glu23Gln
ENST00000592706.5:n.73G>C
NM_002055.4:c.1201G>C	NP_002046.1:p.Glu401Gln
NM_001363846.1:c.1321G>C	NP_001350775.1:p.Glu441Gln
XM_024450690.1:c.1525G>C	XP_024306458.1:p.Glu509Gln
XM_024450692.1:c.1405G>C	XP_024306460.1:p.Glu469Gln
NM_002055.5:c.1201G>C MANE Select	NP_002046.1:p.Glu401Gln
NM_001363846.2:c.1321G>C	NP_001350775.1:p.Glu441Gln