Canonical Allele Identifier: CA399839146

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985504G>C (hg19) ; chr17:g.44908136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908136G>C , CM000679.2:g.44908136G>C	GRCh38
NC_000017.10:g.42985504G>C , CM000679.1:g.42985504G>C	GRCh37
NC_000017.9:g.40341030G>C	NCBI36
NG_008401.1:g.12411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1305C>G	ENSP00000253408.5:p.Asp435Glu
ENST00000253408.10:c.1305C>G	ENSP00000253408.5:p.Asp435Glu
ENST00000441312.2:n.38C>G
ENST00000585543.6:n.338C>G
ENST00000586125.2:c.120C>G	ENSP00000467397.2:p.Asp40Glu
ENST00000588735.3:c.1185C>G MANE Select	ENSP00000466598.2:p.Asp395Glu
ENST00000589701.2:n.2092C>G
ENST00000591880.2:c.284C>G
ENST00000592065.2:n.553C>G
ENST00000638304.1:c.104C>G
ENST00000638400.1:c.20C>G
ENST00000638488.1:n.649C>G
ENST00000638618.1:c.840C>G	ENSP00000492832.1:p.Asp280Glu
ENST00000638921.1:n.112C>G
ENST00000639042.1:c.157C>G
ENST00000639277.1:c.1185C>G	ENSP00000492432.1:p.Asp395Glu
ENST00000639369.1:c.35C>G
ENST00000253408.9:c.1185C>G	ENSP00000253408.4:p.Asp395Glu
ENST00000585543.5:n.338C>G
ENST00000586125.1:c.156C>G	ENSP00000467397.1:p.Asp52Glu
ENST00000588640.5:n.565C>G
ENST00000588735.1:c.83-20C>G	ENSP00000466598.1:n.83-20C>G
ENST00000589701.1:n.87C>G
ENST00000591880.1:c.51C>G	ENSP00000467530.1:p.Asp17Glu
ENST00000592706.5:n.57C>G
NM_002055.4:c.1185C>G	NP_002046.1:p.Asp395Glu
NM_001363846.1:c.1305C>G	NP_001350775.1:p.Asp435Glu
XM_024450690.1:c.1509C>G	XP_024306458.1:p.Asp503Glu
XM_024450692.1:c.1389C>G	XP_024306460.1:p.Asp463Glu
NM_002055.5:c.1185C>G MANE Select	NP_002046.1:p.Asp395Glu
NM_001363846.2:c.1305C>G	NP_001350775.1:p.Asp435Glu