Canonical Allele Identifier: CA984043465

Gene: GFAP

Linked Data

• dbSNP Id: rs2051831438
• gnomAD v3: 17-44913688-A-G
• gnomAD v4: 17-44913688-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913688A>G , CM000679.2:g.44913688A>G	GRCh38
NC_000017.10:g.42991056A>G , CM000679.1:g.42991056A>G	GRCh37
NC_000017.9:g.40346582A>G	NCBI36
NG_008401.1:g.6859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.618+40T>C	ENSP00000253408.5:n.618+40T>C
ENST00000435360.8:c.618+40T>C	ENSP00000403962.1:n.618+40T>C
ENST00000253408.10:c.618+40T>C	ENSP00000253408.5:n.618+40T>C
ENST00000435360.7:c.618+40T>C	ENSP00000403962.1:n.618+40T>C
ENST00000586127.6:n.1147+40T>C
ENST00000586793.6:c.618+40T>C	ENSP00000468500.2:n.618+40T>C
ENST00000587997.6:n.9T>C
ENST00000588735.3:c.618+40T>C MANE Select	ENSP00000466598.2:n.618+40T>C
ENST00000591327.2:n.1772+40T>C
ENST00000592320.6:c.618+40T>C	ENSP00000465320.1:n.618+40T>C
ENST00000638281.1:c.618+40T>C	ENSP00000491088.1:n.618+40T>C
ENST00000638618.1:c.273+40T>C	ENSP00000492832.1:n.273+40T>C
ENST00000639277.1:c.618+40T>C	ENSP00000492432.1:n.618+40T>C
ENST00000640552.1:n.632+40T>C
ENST00000253408.9:c.618+40T>C	ENSP00000253408.4:n.618+40T>C
ENST00000376990.8:c.*17+40T>C	ENSP00000366189.4:n.*17+40T>C
ENST00000435360.6:c.618+40T>C	ENSP00000403962.1:n.618+40T>C
ENST00000585728.5:c.*262+40T>C	ENSP00000465208.1:n.*262+40T>C
ENST00000586127.5:c.-44+40T>C	ENSP00000464795.1:n.-44+40T>C
ENST00000586793.5:c.618+40T>C	ENSP00000468500.1:n.618+40T>C
ENST00000587997.5:c.9T>C
ENST00000588316.1:c.523-258T>C	ENSP00000465629.1:n.523-258T>C
ENST00000588735.1:c.82+1717T>C	ENSP00000466598.1:n.82+1717T>C
ENST00000588957.5:c.-115+40T>C	ENSP00000465565.1:n.-115+40T>C
ENST00000590922.1:n.11T>C
ENST00000591327.1:n.571+40T>C
ENST00000592320.5:c.618+40T>C	ENSP00000465320.1:n.618+40T>C
NM_001131019.2:c.618+40T>C	NP_001124491.1:n.618+40T>C
NM_001242376.1:c.618+40T>C	NP_001229305.1:n.618+40T>C
NM_002055.4:c.618+40T>C	NP_002046.1:n.618+40T>C
NM_001363846.1:c.618+40T>C	NP_001350775.1:n.618+40T>C
XM_024450690.1:c.822+40T>C	XP_024306458.1:n.822+40T>C
XM_024450691.1:c.822+40T>C	XP_024306459.1:n.822+40T>C
XM_024450692.1:c.822+40T>C	XP_024306460.1:n.822+40T>C
XM_024450693.1:c.822+40T>C	XP_024306461.1:n.822+40T>C
NM_002055.5:c.618+40T>C MANE Select	NP_002046.1:n.618+40T>C
NM_001131019.3:c.618+40T>C	NP_001124491.1:n.618+40T>C
NM_001242376.2:c.618+40T>C	NP_001229305.1:n.618+40T>C
NM_001242376.3:c.618+40T>C	NP_001229305.1:n.618+40T>C
NM_001363846.2:c.618+40T>C	NP_001350775.1:n.618+40T>C