Canonical Allele Identifier: CA8608694

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44910171G>A , CM000679.2:g.44910171G>A	GRCh38
NC_000017.10:g.42987539G>A , CM000679.1:g.42987539G>A	GRCh37
NC_000017.9:g.40343065G>A	NCBI36
NG_008401.1:g.10376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1261C>T	ENSP00000253408.5:p.Gln421Ter
ENST00000435360.8:c.1261C>T	ENSP00000403962.1:p.Gln421Ter
ENST00000253408.10:c.1261C>T	ENSP00000253408.5:p.Gln421Ter
ENST00000435360.7:c.1261C>T	ENSP00000403962.1:p.Gln421Ter
ENST00000585543.6:n.324+444C>T
ENST00000586125.2:c.106+444C>T	ENSP00000467397.2:n.106+444C>T
ENST00000588735.3:c.1171+444C>T MANE Select	ENSP00000466598.2:n.1171+444C>T
ENST00000589701.2:n.57C>T
ENST00000591327.2:n.2769C>T
ENST00000591880.2:c.191C>T
ENST00000638281.1:c.1615C>T	ENSP00000491088.1:n.1615C>T
ENST00000638304.1:c.90+444C>T
ENST00000638400.1:c.6+444C>T
ENST00000638488.1:n.556C>T
ENST00000638618.1:c.826+444C>T	ENSP00000492832.1:n.826+444C>T
ENST00000639042.1:c.143+55C>T
ENST00000639277.1:c.1171+444C>T	ENSP00000492432.1:n.1171+444C>T
ENST00000639369.1:c.21+444C>T
ENST00000639921.1:c.788C>T
ENST00000640552.1:n.1629C>T
ENST00000253408.9:c.1171+444C>T	ENSP00000253408.4:n.1171+444C>T
ENST00000435360.6:c.1261C>T	ENSP00000403962.1:p.Gln421Ter
ENST00000585543.5:n.324+444C>T
ENST00000586125.1:c.112C>T	ENSP00000467397.1:p.Gln38Ter
ENST00000588640.5:n.551+444C>T
ENST00000588735.1:c.83-2055C>T	ENSP00000466598.1:n.83-2055C>T
ENST00000591880.1:c.37+444C>T	ENSP00000467530.1:n.37+444C>T
NM_001131019.2:c.1261C>T	NP_001124491.1:p.Gln421Ter
NM_001242376.1:c.*298C>T	NP_001229305.1:n.*298C>T
NM_002055.4:c.1171+444C>T	NP_002046.1:n.1171+444C>T
NM_001363846.1:c.1261C>T	NP_001350775.1:p.Gln421Ter
XM_024450690.1:c.1465C>T	XP_024306458.1:p.Gln489Ter
XM_024450691.1:c.*298C>T	XP_024306459.1:n.*298C>T
XM_024450692.1:c.1375+444C>T	XP_024306460.1:n.1375+444C>T
XM_024450693.1:c.1465C>T	XP_024306461.1:p.Gln489Ter
NM_002055.5:c.1171+444C>T MANE Select	NP_002046.1:n.1171+444C>T
NM_001131019.3:c.1261C>T	NP_001124491.1:p.Gln421Ter
NM_001242376.2:c.*298C>T	NP_001229305.1:n.*298C>T
NM_001242376.3:c.*298C>T	NP_001229305.1:n.*298C>T
NM_001363846.2:c.1261C>T	NP_001350775.1:p.Gln421Ter