Canonical Allele Identifier: CA8608870

Gene: GFAP

Linked Data

• dbSNP Id: rs781341982
• ExAC: 17:42990651 A / G
• gnomAD v2: 17-42990651-A-G
• gnomAD v4: 17-44913283-A-G
• MyVariant Identifiers: chr17:g.42990651A>G (hg19) ; chr17:g.44913283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913283A>G , CM000679.2:g.44913283A>G	GRCh38
NC_000017.10:g.42990651A>G , CM000679.1:g.42990651A>G	GRCh37
NC_000017.9:g.40346177A>G	NCBI36
NG_008401.1:g.7264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.766T>C	ENSP00000253408.5:p.Trp256Arg
ENST00000435360.8:c.766T>C	ENSP00000403962.1:p.Trp256Arg
ENST00000253408.10:c.766T>C	ENSP00000253408.5:p.Trp256Arg
ENST00000435360.7:c.766T>C	ENSP00000403962.1:p.Trp256Arg
ENST00000586127.6:n.1295T>C
ENST00000586793.6:c.766T>C	ENSP00000468500.2:p.Trp256Arg
ENST00000587997.6:n.242T>C
ENST00000588735.3:c.766T>C MANE Select	ENSP00000466598.2:p.Trp256Arg
ENST00000591327.2:n.1920T>C
ENST00000592320.6:c.618+445T>C	ENSP00000465320.1:n.618+445T>C
ENST00000638281.1:c.766T>C	ENSP00000491088.1:p.Trp256Arg
ENST00000638618.1:c.421T>C	ENSP00000492832.1:p.Trp141Arg
ENST00000639277.1:c.766T>C	ENSP00000492432.1:p.Trp256Arg
ENST00000640552.1:n.780T>C
ENST00000253408.9:c.766T>C	ENSP00000253408.4:p.Trp256Arg
ENST00000376990.8:c.*165T>C	ENSP00000366189.4:n.*165T>C
ENST00000435360.6:c.766T>C	ENSP00000403962.1:p.Trp256Arg
ENST00000586793.5:c.766T>C	ENSP00000468500.1:p.Trp256Arg
ENST00000587997.5:c.242T>C
ENST00000588316.1:c.670T>C	ENSP00000465629.1:p.Trp224Arg
ENST00000588735.1:c.82+2122T>C	ENSP00000466598.1:n.82+2122T>C
ENST00000588957.5:c.34T>C	ENSP00000465565.1:p.Trp12Arg
ENST00000590922.1:n.416T>C
ENST00000592320.5:c.618+445T>C	ENSP00000465320.1:n.618+445T>C
NM_001131019.2:c.766T>C	NP_001124491.1:p.Trp256Arg
NM_001242376.1:c.766T>C	NP_001229305.1:p.Trp256Arg
NM_002055.4:c.766T>C	NP_002046.1:p.Trp256Arg
NM_001363846.1:c.766T>C	NP_001350775.1:p.Trp256Arg
XM_024450690.1:c.970T>C	XP_024306458.1:p.Trp324Arg
XM_024450691.1:c.970T>C	XP_024306459.1:p.Trp324Arg
XM_024450692.1:c.970T>C	XP_024306460.1:p.Trp324Arg
XM_024450693.1:c.970T>C	XP_024306461.1:p.Trp324Arg
NM_002055.5:c.766T>C MANE Select	NP_002046.1:p.Trp256Arg
NM_001131019.3:c.766T>C	NP_001124491.1:p.Trp256Arg
NM_001242376.2:c.766T>C	NP_001229305.1:p.Trp256Arg
NM_001242376.3:c.766T>C	NP_001229305.1:p.Trp256Arg
NM_001363846.2:c.766T>C	NP_001350775.1:p.Trp256Arg