Canonical Allele Identifier: CA399843459

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1720685
• ClinVar RCV Id: RCV002298394
• MyVariant Identifiers: chr17:g.42988642G>C (hg19) ; chr17:g.44911274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911274G>C , CM000679.2:g.44911274G>C	GRCh38
NC_000017.10:g.42988642G>C , CM000679.1:g.42988642G>C	GRCh37
NC_000017.9:g.40344168G>C	NCBI36
NG_008401.1:g.9273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1089C>G	ENSP00000253408.5:p.Ile363Met
ENST00000435360.8:c.1089C>G	ENSP00000403962.1:p.Ile363Met
ENST00000253408.10:c.1089C>G	ENSP00000253408.5:p.Ile363Met
ENST00000435360.7:c.1089C>G	ENSP00000403962.1:p.Ile363Met
ENST00000585543.6:n.242C>G
ENST00000586125.2:c.24C>G	ENSP00000467397.2:p.Ile8Met
ENST00000586127.6:n.1618C>G
ENST00000586793.6:c.954C>G	ENSP00000468500.2:p.Ile318Met
ENST00000587997.6:n.565C>G
ENST00000588735.3:c.1089C>G MANE Select	ENSP00000466598.2:p.Ile363Met
ENST00000591327.2:n.2243C>G
ENST00000591880.2:c.19C>G
ENST00000592320.6:c.666C>G	ENSP00000465320.1:p.Ile222Met
ENST00000638281.1:c.1089C>G	ENSP00000491088.1:p.Ile363Met
ENST00000638304.1:c.8C>G
ENST00000638488.1:n.30C>G
ENST00000638618.1:c.744C>G	ENSP00000492832.1:p.Ile248Met
ENST00000639042.1:c.26C>G
ENST00000639277.1:c.1089C>G	ENSP00000492432.1:p.Ile363Met
ENST00000639921.1:c.46C>G
ENST00000640552.1:n.1103C>G
ENST00000253408.9:c.1089C>G	ENSP00000253408.4:p.Ile363Met
ENST00000435360.6:c.1089C>G	ENSP00000403962.1:p.Ile363Met
ENST00000585543.5:n.242C>G
ENST00000586793.5:c.1089C>G	ENSP00000468500.1:p.Ile363Met
ENST00000587997.5:c.565C>G
ENST00000588640.5:n.469C>G
ENST00000588735.1:c.83-3158C>G	ENSP00000466598.1:n.83-3158C>G
ENST00000592320.5:c.666C>G	ENSP00000465320.1:p.Ile222Met
NM_001131019.2:c.1089C>G	NP_001124491.1:p.Ile363Met
NM_001242376.1:c.1089C>G	NP_001229305.1:p.Ile363Met
NM_002055.4:c.1089C>G	NP_002046.1:p.Ile363Met
NM_001363846.1:c.1089C>G	NP_001350775.1:p.Ile363Met
XM_024450690.1:c.1293C>G	XP_024306458.1:p.Ile431Met
XM_024450691.1:c.1293C>G	XP_024306459.1:p.Ile431Met
XM_024450692.1:c.1293C>G	XP_024306460.1:p.Ile431Met
XM_024450693.1:c.1293C>G	XP_024306461.1:p.Ile431Met
NM_002055.5:c.1089C>G MANE Select	NP_002046.1:p.Ile363Met
NM_001131019.3:c.1089C>G	NP_001124491.1:p.Ile363Met
NM_001242376.2:c.1089C>G	NP_001229305.1:p.Ile363Met
NM_001242376.3:c.1089C>G	NP_001229305.1:p.Ile363Met
NM_001363846.2:c.1089C>G	NP_001350775.1:p.Ile363Met