Canonical Allele Identifier: CA399839179

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985509G>C (hg19) ; chr17:g.44908141G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908141G>C , CM000679.2:g.44908141G>C	GRCh38
NC_000017.10:g.42985509G>C , CM000679.1:g.42985509G>C	GRCh37
NC_000017.9:g.40341035G>C	NCBI36
NG_008401.1:g.12406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1300C>G	ENSP00000253408.5:p.Leu434Val
ENST00000253408.10:c.1300C>G	ENSP00000253408.5:p.Leu434Val
ENST00000441312.2:n.33C>G
ENST00000585543.6:n.333C>G
ENST00000586125.2:c.115C>G	ENSP00000467397.2:p.Leu39Val
ENST00000588735.3:c.1180C>G MANE Select	ENSP00000466598.2:p.Leu394Val
ENST00000589701.2:n.2087C>G
ENST00000591880.2:c.279C>G
ENST00000592065.2:n.548C>G
ENST00000638304.1:c.99C>G
ENST00000638400.1:c.15C>G
ENST00000638488.1:n.644C>G
ENST00000638618.1:c.835C>G	ENSP00000492832.1:p.Leu279Val
ENST00000638921.1:n.107C>G
ENST00000639042.1:c.152C>G
ENST00000639277.1:c.1180C>G	ENSP00000492432.1:p.Leu394Val
ENST00000639369.1:c.30C>G
ENST00000253408.9:c.1180C>G	ENSP00000253408.4:p.Leu394Val
ENST00000585543.5:n.333C>G
ENST00000586125.1:c.151C>G	ENSP00000467397.1:p.Leu51Val
ENST00000588640.5:n.560C>G
ENST00000588735.1:c.83-25C>G	ENSP00000466598.1:n.83-25C>G
ENST00000589701.1:n.82C>G
ENST00000591880.1:c.46C>G	ENSP00000467530.1:p.Leu16Val
ENST00000592706.5:n.52C>G
NM_002055.4:c.1180C>G	NP_002046.1:p.Leu394Val
NM_001363846.1:c.1300C>G	NP_001350775.1:p.Leu434Val
XM_024450690.1:c.1504C>G	XP_024306458.1:p.Leu502Val
XM_024450692.1:c.1384C>G	XP_024306460.1:p.Leu462Val
NM_002055.5:c.1180C>G MANE Select	NP_002046.1:p.Leu394Val
NM_001363846.2:c.1300C>G	NP_001350775.1:p.Leu434Val