Canonical Allele Identifier: CA399845856

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990742G>C (hg19) ; chr17:g.44913374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913374G>C , CM000679.2:g.44913374G>C	GRCh38
NC_000017.10:g.42990742G>C , CM000679.1:g.42990742G>C	GRCh37
NC_000017.9:g.40346268G>C	NCBI36
NG_008401.1:g.7173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.675C>G	ENSP00000253408.5:p.Asp225Glu
ENST00000435360.8:c.675C>G	ENSP00000403962.1:p.Asp225Glu
ENST00000253408.10:c.675C>G	ENSP00000253408.5:p.Asp225Glu
ENST00000435360.7:c.675C>G	ENSP00000403962.1:p.Asp225Glu
ENST00000586127.6:n.1204C>G
ENST00000586793.6:c.675C>G	ENSP00000468500.2:p.Asp225Glu
ENST00000587997.6:n.151C>G
ENST00000588735.3:c.675C>G MANE Select	ENSP00000466598.2:p.Asp225Glu
ENST00000591327.2:n.1829C>G
ENST00000592320.6:c.618+354C>G	ENSP00000465320.1:n.618+354C>G
ENST00000638281.1:c.675C>G	ENSP00000491088.1:p.Asp225Glu
ENST00000638618.1:c.330C>G	ENSP00000492832.1:p.Asp110Glu
ENST00000639277.1:c.675C>G	ENSP00000492432.1:p.Asp225Glu
ENST00000640552.1:n.689C>G
ENST00000253408.9:c.675C>G	ENSP00000253408.4:p.Asp225Glu
ENST00000376990.8:c.*74C>G	ENSP00000366189.4:n.*74C>G
ENST00000435360.6:c.675C>G	ENSP00000403962.1:p.Asp225Glu
ENST00000585728.5:c.*319C>G	ENSP00000465208.1:n.*319C>G
ENST00000586127.5:c.14C>G	ENSP00000464795.1:p.Thr5Arg
ENST00000586793.5:c.675C>G	ENSP00000468500.1:p.Asp225Glu
ENST00000587997.5:c.151C>G
ENST00000588316.1:c.579C>G	ENSP00000465629.1:p.Asp193Glu
ENST00000588735.1:c.82+2031C>G	ENSP00000466598.1:n.82+2031C>G
ENST00000588957.5:c.-58C>G	ENSP00000465565.1:n.-58C>G
ENST00000590922.1:n.325C>G
ENST00000592320.5:c.618+354C>G	ENSP00000465320.1:n.618+354C>G
NM_001131019.2:c.675C>G	NP_001124491.1:p.Asp225Glu
NM_001242376.1:c.675C>G	NP_001229305.1:p.Asp225Glu
NM_002055.4:c.675C>G	NP_002046.1:p.Asp225Glu
NM_001363846.1:c.675C>G	NP_001350775.1:p.Asp225Glu
XM_024450690.1:c.879C>G	XP_024306458.1:p.Asp293Glu
XM_024450691.1:c.879C>G	XP_024306459.1:p.Asp293Glu
XM_024450692.1:c.879C>G	XP_024306460.1:p.Asp293Glu
XM_024450693.1:c.879C>G	XP_024306461.1:p.Asp293Glu
NM_002055.5:c.675C>G MANE Select	NP_002046.1:p.Asp225Glu
NM_001131019.3:c.675C>G	NP_001124491.1:p.Asp225Glu
NM_001242376.2:c.675C>G	NP_001229305.1:p.Asp225Glu
NM_001242376.3:c.675C>G	NP_001229305.1:p.Asp225Glu
NM_001363846.2:c.675C>G	NP_001350775.1:p.Asp225Glu