Canonical Allele Identifier: CA2638273124

Gene: GFAP

Linked Data

• gnomAD v4: 17-44907841-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907841C>A , CM000679.2:g.44907841C>A	GRCh38
NC_000017.10:g.42985209C>A , CM000679.1:g.42985209C>A	GRCh37
NC_000017.9:g.40340735C>A	NCBI36
NG_008401.1:g.12706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+223G>T	ENSP00000253408.5:n.1377+223G>T
ENST00000253408.10:c.1377+223G>T	ENSP00000253408.5:n.1377+223G>T
ENST00000441312.2:n.110+223G>T
ENST00000585543.6:n.410+223G>T
ENST00000586125.2:c.415G>T	ENSP00000467397.2:n.415G>T
ENST00000588735.3:c.1257+223G>T MANE Select	ENSP00000466598.2:n.1257+223G>T
ENST00000589701.2:n.2164+223G>T
ENST00000591880.2:c.579G>T
ENST00000592065.2:n.625+223G>T
ENST00000638304.1:c.176+223G>T
ENST00000638400.1:c.92+223G>T
ENST00000638488.1:n.721+223G>T
ENST00000638618.1:c.912+223G>T	ENSP00000492832.1:n.912+223G>T
ENST00000638921.1:n.407G>T
ENST00000639042.1:c.229+223G>T
ENST00000639243.1:c.13+223G>T
ENST00000639277.1:c.1257+223G>T	ENSP00000492432.1:n.1257+223G>T
ENST00000639369.1:c.107+223G>T
ENST00000640545.1:c.63+223G>T	ENSP00000491735.1:n.63+223G>T
ENST00000640859.1:c.71+223G>T
ENST00000253408.9:c.1257+223G>T	ENSP00000253408.4:n.1257+223G>T
ENST00000585543.5:n.410+223G>T
ENST00000588735.1:c.135+223G>T	ENSP00000466598.1:n.135+223G>T
ENST00000589701.1:n.159+223G>T
ENST00000591880.1:c.346G>T	ENSP00000467530.1:n.346G>T
ENST00000592065.1:n.51+223G>T
ENST00000592706.5:n.129+223G>T
NM_002055.4:c.1257+223G>T	NP_002046.1:n.1257+223G>T
NM_001363846.1:c.1377+223G>T	NP_001350775.1:n.1377+223G>T
XM_024450690.1:c.1581+223G>T	XP_024306458.1:n.1581+223G>T
XM_024450692.1:c.1461+223G>T	XP_024306460.1:n.1461+223G>T
NM_002055.5:c.1257+223G>T MANE Select	NP_002046.1:n.1257+223G>T
NM_001363846.2:c.1377+223G>T	NP_001350775.1:n.1377+223G>T