Canonical Allele Identifier: CA2638272582

Gene: GFAP

Linked Data

• gnomAD v4: 17-44911100-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911100A>G , CM000679.2:g.44911100A>G	GRCh38
NC_000017.10:g.42988468A>G , CM000679.1:g.42988468A>G	GRCh37
NC_000017.9:g.40343994A>G	NCBI36
NG_008401.1:g.9447T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1127+136T>C	ENSP00000253408.5:n.1127+136T>C
ENST00000435360.8:c.1127+136T>C	ENSP00000403962.1:n.1127+136T>C
ENST00000253408.10:c.1127+136T>C	ENSP00000253408.5:n.1127+136T>C
ENST00000435360.7:c.1127+136T>C	ENSP00000403962.1:n.1127+136T>C
ENST00000585543.6:n.280+136T>C
ENST00000586125.2:c.62+136T>C	ENSP00000467397.2:n.62+136T>C
ENST00000586127.6:n.1656+136T>C
ENST00000586793.6:c.992+136T>C	ENSP00000468500.2:n.992+136T>C
ENST00000587997.6:n.603+136T>C
ENST00000588735.3:c.1127+136T>C MANE Select	ENSP00000466598.2:n.1127+136T>C
ENST00000591327.2:n.2281+136T>C
ENST00000591880.2:c.57+136T>C
ENST00000592320.6:c.704+136T>C	ENSP00000465320.1:n.704+136T>C
ENST00000638281.1:c.1127+136T>C	ENSP00000491088.1:n.1127+136T>C
ENST00000638304.1:c.46+136T>C
ENST00000638488.1:n.68+136T>C
ENST00000638618.1:c.782+136T>C	ENSP00000492832.1:n.782+136T>C
ENST00000639042.1:c.64+136T>C
ENST00000639277.1:c.1127+136T>C	ENSP00000492432.1:n.1127+136T>C
ENST00000639921.1:c.84+136T>C
ENST00000640552.1:n.1141+136T>C
ENST00000253408.9:c.1127+136T>C	ENSP00000253408.4:n.1127+136T>C
ENST00000435360.6:c.1127+136T>C	ENSP00000403962.1:n.1127+136T>C
ENST00000585543.5:n.280+136T>C
ENST00000586793.5:c.1127+136T>C	ENSP00000468500.1:n.1127+136T>C
ENST00000588640.5:n.507+136T>C
ENST00000588735.1:c.83-2984T>C	ENSP00000466598.1:n.83-2984T>C
ENST00000592320.5:c.704+136T>C	ENSP00000465320.1:n.704+136T>C
NM_001131019.2:c.1127+136T>C	NP_001124491.1:n.1127+136T>C
NM_001242376.1:c.1127+136T>C	NP_001229305.1:n.1127+136T>C
NM_002055.4:c.1127+136T>C	NP_002046.1:n.1127+136T>C
NM_001363846.1:c.1127+136T>C	NP_001350775.1:n.1127+136T>C
XM_024450690.1:c.1331+136T>C	XP_024306458.1:n.1331+136T>C
XM_024450691.1:c.1331+136T>C	XP_024306459.1:n.1331+136T>C
XM_024450692.1:c.1331+136T>C	XP_024306460.1:n.1331+136T>C
XM_024450693.1:c.1331+136T>C	XP_024306461.1:n.1331+136T>C
NM_002055.5:c.1127+136T>C MANE Select	NP_002046.1:n.1127+136T>C
NM_001131019.3:c.1127+136T>C	NP_001124491.1:n.1127+136T>C
NM_001242376.2:c.1127+136T>C	NP_001229305.1:n.1127+136T>C
NM_001242376.3:c.1127+136T>C	NP_001229305.1:n.1127+136T>C
NM_001363846.2:c.1127+136T>C	NP_001350775.1:n.1127+136T>C