Canonical Allele Identifier: CA500321488

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990712C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913344C>G , CM000679.2:g.44913344C>G	GRCh38
NC_000017.10:g.42990712C>G , CM000679.1:g.42990712C>G	GRCh37
NC_000017.9:g.40346238C>G	NCBI36
NG_008401.1:g.7203G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.705G>C	ENSP00000253408.5:p.Leu235=
ENST00000435360.8:c.705G>C	ENSP00000403962.1:p.Leu235=
ENST00000253408.10:c.705G>C	ENSP00000253408.5:p.Leu235=
ENST00000435360.7:c.705G>C	ENSP00000403962.1:p.Leu235=
ENST00000586127.6:n.1234G>C
ENST00000586793.6:c.705G>C	ENSP00000468500.2:p.Leu235=
ENST00000587997.6:n.181G>C
ENST00000588735.3:c.705G>C MANE Select	ENSP00000466598.2:p.Leu235=
ENST00000591327.2:n.1859G>C
ENST00000592320.6:c.618+384G>C	ENSP00000465320.1:n.618+384G>C
ENST00000638281.1:c.705G>C	ENSP00000491088.1:p.Leu235=
ENST00000638618.1:c.360G>C	ENSP00000492832.1:p.Leu120=
ENST00000639277.1:c.705G>C	ENSP00000492432.1:p.Leu235=
ENST00000640552.1:n.719G>C
ENST00000253408.9:c.705G>C	ENSP00000253408.4:p.Leu235=
ENST00000376990.8:c.*104G>C	ENSP00000366189.4:n.*104G>C
ENST00000435360.6:c.705G>C	ENSP00000403962.1:p.Leu235=
ENST00000585728.5:c.*349G>C	ENSP00000465208.1:n.*349G>C
ENST00000586793.5:c.705G>C	ENSP00000468500.1:p.Leu235=
ENST00000587997.5:c.181G>C
ENST00000588316.1:c.609G>C	ENSP00000465629.1:p.Leu203=
ENST00000588735.1:c.82+2061G>C	ENSP00000466598.1:n.82+2061G>C
ENST00000588957.5:c.-28G>C	ENSP00000465565.1:n.-28G>C
ENST00000590922.1:n.355G>C
ENST00000592320.5:c.618+384G>C	ENSP00000465320.1:n.618+384G>C
NM_001131019.2:c.705G>C	NP_001124491.1:p.Leu235=
NM_001242376.1:c.705G>C	NP_001229305.1:p.Leu235=
NM_002055.4:c.705G>C	NP_002046.1:p.Leu235=
NM_001363846.1:c.705G>C	NP_001350775.1:p.Leu235=
XM_024450690.1:c.909G>C	XP_024306458.1:p.Leu303=
XM_024450691.1:c.909G>C	XP_024306459.1:p.Leu303=
XM_024450692.1:c.909G>C	XP_024306460.1:p.Leu303=
XM_024450693.1:c.909G>C	XP_024306461.1:p.Leu303=
NM_002055.5:c.705G>C MANE Select	NP_002046.1:p.Leu235=
NM_001131019.3:c.705G>C	NP_001124491.1:p.Leu235=
NM_001242376.2:c.705G>C	NP_001229305.1:p.Leu235=
NM_001242376.3:c.705G>C	NP_001229305.1:p.Leu235=
NM_001363846.2:c.705G>C	NP_001350775.1:p.Leu235=