Canonical Allele Identifier: CA291028281

Gene: GFAP

Linked Data

• dbSNP Id: rs963951548
• MyVariant Identifiers: chr17:g.42988554T>G (hg19) ; chr17:g.44911186T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911186T>G , CM000679.2:g.44911186T>G	GRCh38
NC_000017.10:g.42988554T>G , CM000679.1:g.42988554T>G	GRCh37
NC_000017.9:g.40344080T>G	NCBI36
NG_008401.1:g.9361A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+50A>C	ENSP00000253408.5:n.1127+50A>C
ENST00000435360.8:c.1127+50A>C	ENSP00000403962.1:n.1127+50A>C
ENST00000253408.10:c.1127+50A>C	ENSP00000253408.5:n.1127+50A>C
ENST00000435360.7:c.1127+50A>C	ENSP00000403962.1:n.1127+50A>C
ENST00000585543.6:n.280+50A>C
ENST00000586125.2:c.62+50A>C	ENSP00000467397.2:n.62+50A>C
ENST00000586127.6:n.1656+50A>C
ENST00000586793.6:c.992+50A>C	ENSP00000468500.2:n.992+50A>C
ENST00000587997.6:n.603+50A>C
ENST00000588735.3:c.1127+50A>C MANE Select	ENSP00000466598.2:n.1127+50A>C
ENST00000591327.2:n.2281+50A>C
ENST00000591880.2:c.57+50A>C
ENST00000592320.6:c.704+50A>C	ENSP00000465320.1:n.704+50A>C
ENST00000638281.1:c.1127+50A>C	ENSP00000491088.1:n.1127+50A>C
ENST00000638304.1:c.46+50A>C
ENST00000638488.1:n.68+50A>C
ENST00000638618.1:c.782+50A>C	ENSP00000492832.1:n.782+50A>C
ENST00000639042.1:c.64+50A>C
ENST00000639277.1:c.1127+50A>C	ENSP00000492432.1:n.1127+50A>C
ENST00000639921.1:c.84+50A>C
ENST00000640552.1:n.1141+50A>C
ENST00000253408.9:c.1127+50A>C	ENSP00000253408.4:n.1127+50A>C
ENST00000435360.6:c.1127+50A>C	ENSP00000403962.1:n.1127+50A>C
ENST00000585543.5:n.280+50A>C
ENST00000586793.5:c.1127+50A>C	ENSP00000468500.1:n.1127+50A>C
ENST00000588640.5:n.507+50A>C
ENST00000588735.1:c.83-3070A>C	ENSP00000466598.1:n.83-3070A>C
ENST00000592320.5:c.704+50A>C	ENSP00000465320.1:n.704+50A>C
NM_001131019.2:c.1127+50A>C	NP_001124491.1:n.1127+50A>C
NM_001242376.1:c.1127+50A>C	NP_001229305.1:n.1127+50A>C
NM_002055.4:c.1127+50A>C	NP_002046.1:n.1127+50A>C
NM_001363846.1:c.1127+50A>C	NP_001350775.1:n.1127+50A>C
XM_024450690.1:c.1331+50A>C	XP_024306458.1:n.1331+50A>C
XM_024450691.1:c.1331+50A>C	XP_024306459.1:n.1331+50A>C
XM_024450692.1:c.1331+50A>C	XP_024306460.1:n.1331+50A>C
XM_024450693.1:c.1331+50A>C	XP_024306461.1:n.1331+50A>C
NM_002055.5:c.1127+50A>C MANE Select	NP_002046.1:n.1127+50A>C
NM_001131019.3:c.1127+50A>C	NP_001124491.1:n.1127+50A>C
NM_001242376.2:c.1127+50A>C	NP_001229305.1:n.1127+50A>C
NM_001242376.3:c.1127+50A>C	NP_001229305.1:n.1127+50A>C
NM_001363846.2:c.1127+50A>C	NP_001350775.1:n.1127+50A>C