Canonical Allele Identifier: CA2261610254

Gene: GFAP

Linked Data

• dbSNP Id: rs2051682404
• gnomAD v4: 17-44908136-G-A

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1305C>T	ENSP00000253408.5:p.Asp435=
ENST00000253408.10:c.1305C>T	ENSP00000253408.5:p.Asp435=
ENST00000441312.2:n.38C>T
ENST00000585543.6:n.338C>T
ENST00000586125.2:c.120C>T	ENSP00000467397.2:p.Asp40=
ENST00000588735.3:c.1185C>T MANE Select	ENSP00000466598.2:p.Asp395=
ENST00000589701.2:n.2092C>T
ENST00000591880.2:c.284C>T
ENST00000592065.2:n.553C>T
ENST00000638304.1:c.104C>T
ENST00000638400.1:c.20C>T
ENST00000638488.1:n.649C>T
ENST00000638618.1:c.840C>T	ENSP00000492832.1:p.Asp280=
ENST00000638921.1:n.112C>T
ENST00000639042.1:c.157C>T
ENST00000639277.1:c.1185C>T	ENSP00000492432.1:p.Asp395=
ENST00000639369.1:c.35C>T
ENST00000253408.9:c.1185C>T	ENSP00000253408.4:p.Asp395=
ENST00000585543.5:n.338C>T
ENST00000586125.1:c.156C>T	ENSP00000467397.1:p.Asp52=
ENST00000588640.5:n.565C>T
ENST00000588735.1:c.83-20C>T	ENSP00000466598.1:n.83-20C>T
ENST00000589701.1:n.87C>T
ENST00000591880.1:c.51C>T	ENSP00000467530.1:p.Asp17=
ENST00000592706.5:n.57C>T
NM_002055.4:c.1185C>T	NP_002046.1:p.Asp395=
NM_001363846.1:c.1305C>T	NP_001350775.1:p.Asp435=
XM_024450690.1:c.1509C>T	XP_024306458.1:p.Asp503=
XM_024450692.1:c.1389C>T	XP_024306460.1:p.Asp463=
NM_002055.5:c.1185C>T MANE Select	NP_002046.1:p.Asp395=
NM_001363846.2:c.1305C>T	NP_001350775.1:p.Asp435=