Canonical Allele Identifier: CA2638276058

Gene: GFAP

Linked Data

• gnomAD v4: 17-44913658-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913658C>A , CM000679.2:g.44913658C>A	GRCh38
NC_000017.10:g.42991026C>A , CM000679.1:g.42991026C>A	GRCh37
NC_000017.9:g.40346552C>A	NCBI36
NG_008401.1:g.6889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.618+70G>T	ENSP00000253408.5:n.618+70G>T
ENST00000435360.8:c.618+70G>T	ENSP00000403962.1:n.618+70G>T
ENST00000253408.10:c.618+70G>T	ENSP00000253408.5:n.618+70G>T
ENST00000435360.7:c.618+70G>T	ENSP00000403962.1:n.618+70G>T
ENST00000586127.6:n.1147+70G>T
ENST00000586793.6:c.618+70G>T	ENSP00000468500.2:n.618+70G>T
ENST00000587997.6:n.39G>T
ENST00000588735.3:c.618+70G>T MANE Select	ENSP00000466598.2:n.618+70G>T
ENST00000591327.2:n.1772+70G>T
ENST00000592320.6:c.618+70G>T	ENSP00000465320.1:n.618+70G>T
ENST00000638281.1:c.618+70G>T	ENSP00000491088.1:n.618+70G>T
ENST00000638618.1:c.273+70G>T	ENSP00000492832.1:n.273+70G>T
ENST00000639277.1:c.618+70G>T	ENSP00000492432.1:n.618+70G>T
ENST00000640552.1:n.632+70G>T
ENST00000253408.9:c.618+70G>T	ENSP00000253408.4:n.618+70G>T
ENST00000376990.8:c.*17+70G>T	ENSP00000366189.4:n.*17+70G>T
ENST00000435360.6:c.618+70G>T	ENSP00000403962.1:n.618+70G>T
ENST00000585728.5:c.*262+70G>T	ENSP00000465208.1:n.*262+70G>T
ENST00000586127.5:c.-44+70G>T	ENSP00000464795.1:n.-44+70G>T
ENST00000586793.5:c.618+70G>T	ENSP00000468500.1:n.618+70G>T
ENST00000587997.5:c.39G>T
ENST00000588316.1:c.523-228G>T	ENSP00000465629.1:n.523-228G>T
ENST00000588735.1:c.82+1747G>T	ENSP00000466598.1:n.82+1747G>T
ENST00000588957.5:c.-115+70G>T	ENSP00000465565.1:n.-115+70G>T
ENST00000590922.1:n.41G>T
ENST00000591327.1:n.571+70G>T
ENST00000592320.5:c.618+70G>T	ENSP00000465320.1:n.618+70G>T
NM_001131019.2:c.618+70G>T	NP_001124491.1:n.618+70G>T
NM_001242376.1:c.618+70G>T	NP_001229305.1:n.618+70G>T
NM_002055.4:c.618+70G>T	NP_002046.1:n.618+70G>T
NM_001363846.1:c.618+70G>T	NP_001350775.1:n.618+70G>T
XM_024450690.1:c.822+70G>T	XP_024306458.1:n.822+70G>T
XM_024450691.1:c.822+70G>T	XP_024306459.1:n.822+70G>T
XM_024450692.1:c.822+70G>T	XP_024306460.1:n.822+70G>T
XM_024450693.1:c.822+70G>T	XP_024306461.1:n.822+70G>T
NM_002055.5:c.618+70G>T MANE Select	NP_002046.1:n.618+70G>T
NM_001131019.3:c.618+70G>T	NP_001124491.1:n.618+70G>T
NM_001242376.2:c.618+70G>T	NP_001229305.1:n.618+70G>T
NM_001242376.3:c.618+70G>T	NP_001229305.1:n.618+70G>T
NM_001363846.2:c.618+70G>T	NP_001350775.1:n.618+70G>T