Canonical Allele Identifier: CA2594379685

Gene: GFAP

Linked Data

• dbSNP Id: rs763769288
• gnomAD v3: 17-44908227-C-A
• gnomAD v4: 17-44908227-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908227C>A , CM000679.2:g.44908227C>A	GRCh38
NC_000017.10:g.42985595C>A , CM000679.1:g.42985595C>A	GRCh37
NC_000017.9:g.40341121C>A	NCBI36
NG_008401.1:g.12320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-78G>T	ENSP00000253408.5:n.1292-78G>T
ENST00000253408.10:c.1292-78G>T	ENSP00000253408.5:n.1292-78G>T
ENST00000441312.2:n.25-78G>T
ENST00000585543.6:n.325-78G>T
ENST00000586125.2:c.107-78G>T	ENSP00000467397.2:n.107-78G>T
ENST00000588735.3:c.1172-78G>T MANE Select	ENSP00000466598.2:n.1172-78G>T
ENST00000589701.2:n.2001G>T
ENST00000591880.2:c.271-78G>T
ENST00000592065.2:n.462G>T
ENST00000638304.1:c.91-78G>T
ENST00000638400.1:c.7-78G>T
ENST00000638488.1:n.636-78G>T
ENST00000638618.1:c.827-78G>T	ENSP00000492832.1:n.827-78G>T
ENST00000638921.1:n.21G>T
ENST00000639042.1:c.144-78G>T
ENST00000639277.1:c.1172-78G>T	ENSP00000492432.1:n.1172-78G>T
ENST00000639369.1:c.22-78G>T
ENST00000640552.1:n.3573G>T
ENST00000253408.9:c.1172-78G>T	ENSP00000253408.4:n.1172-78G>T
ENST00000585543.5:n.325-78G>T
ENST00000586125.1:c.143-78G>T	ENSP00000467397.1:n.143-78G>T
ENST00000588640.5:n.552-78G>T
ENST00000588735.1:c.83-111G>T	ENSP00000466598.1:n.83-111G>T
ENST00000591880.1:c.38-78G>T	ENSP00000467530.1:n.38-78G>T
ENST00000592706.5:n.44-78G>T
NM_002055.4:c.1172-78G>T	NP_002046.1:n.1172-78G>T
NM_001363846.1:c.1292-78G>T	NP_001350775.1:n.1292-78G>T
XM_024450690.1:c.1496-78G>T	XP_024306458.1:n.1496-78G>T
XM_024450692.1:c.1376-78G>T	XP_024306460.1:n.1376-78G>T
NM_002055.5:c.1172-78G>T MANE Select	NP_002046.1:n.1172-78G>T
NM_001242376.2:c.*2242G>T	NP_001229305.1:n.*2242G>T
NM_001363846.2:c.1292-78G>T	NP_001350775.1:n.1292-78G>T