Canonical Allele Identifier: CA399845781

Gene: GFAP

Linked Data

• gnomAD v4: 17-44913356-G-C
• MyVariant Identifiers: chr17:g.42990724G>C (hg19) ; chr17:g.44913356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913356G>C , CM000679.2:g.44913356G>C	GRCh38
NC_000017.10:g.42990724G>C , CM000679.1:g.42990724G>C	GRCh37
NC_000017.9:g.40346250G>C	NCBI36
NG_008401.1:g.7191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.693C>G	ENSP00000253408.5:p.Leu231=
ENST00000435360.8:c.693C>G	ENSP00000403962.1:p.Leu231=
ENST00000253408.10:c.693C>G	ENSP00000253408.5:p.Leu231=
ENST00000435360.7:c.693C>G	ENSP00000403962.1:p.Leu231=
ENST00000586127.6:n.1222C>G
ENST00000586793.6:c.693C>G	ENSP00000468500.2:p.Leu231=
ENST00000587997.6:n.169C>G
ENST00000588735.3:c.693C>G MANE Select	ENSP00000466598.2:p.Leu231=
ENST00000591327.2:n.1847C>G
ENST00000592320.6:c.618+372C>G	ENSP00000465320.1:n.618+372C>G
ENST00000638281.1:c.693C>G	ENSP00000491088.1:p.Leu231=
ENST00000638618.1:c.348C>G	ENSP00000492832.1:p.Leu116=
ENST00000639277.1:c.693C>G	ENSP00000492432.1:p.Leu231=
ENST00000640552.1:n.707C>G
ENST00000253408.9:c.693C>G	ENSP00000253408.4:p.Leu231=
ENST00000376990.8:c.*92C>G	ENSP00000366189.4:n.*92C>G
ENST00000435360.6:c.693C>G	ENSP00000403962.1:p.Leu231=
ENST00000585728.5:c.*337C>G	ENSP00000465208.1:n.*337C>G
ENST00000586127.5:c.32C>G	ENSP00000464795.1:p.Ser11Ter
ENST00000586793.5:c.693C>G	ENSP00000468500.1:p.Leu231=
ENST00000587997.5:c.169C>G
ENST00000588316.1:c.597C>G	ENSP00000465629.1:p.Leu199=
ENST00000588735.1:c.82+2049C>G	ENSP00000466598.1:n.82+2049C>G
ENST00000588957.5:c.-40C>G	ENSP00000465565.1:n.-40C>G
ENST00000590922.1:n.343C>G
ENST00000592320.5:c.618+372C>G	ENSP00000465320.1:n.618+372C>G
NM_001131019.2:c.693C>G	NP_001124491.1:p.Leu231=
NM_001242376.1:c.693C>G	NP_001229305.1:p.Leu231=
NM_002055.4:c.693C>G	NP_002046.1:p.Leu231=
NM_001363846.1:c.693C>G	NP_001350775.1:p.Leu231=
XM_024450690.1:c.897C>G	XP_024306458.1:p.Leu299=
XM_024450691.1:c.897C>G	XP_024306459.1:p.Leu299=
XM_024450692.1:c.897C>G	XP_024306460.1:p.Leu299=
XM_024450693.1:c.897C>G	XP_024306461.1:p.Leu299=
NM_002055.5:c.693C>G MANE Select	NP_002046.1:p.Leu231=
NM_001131019.3:c.693C>G	NP_001124491.1:p.Leu231=
NM_001242376.2:c.693C>G	NP_001229305.1:p.Leu231=
NM_001242376.3:c.693C>G	NP_001229305.1:p.Leu231=
NM_001363846.2:c.693C>G	NP_001350775.1:p.Leu231=