Canonical Allele Identifier: CA399838142

Gene: GFAP

Linked Data

• gnomAD v4: 17-44907945-G-A
• COSMIC: COSN20054185
• MyVariant Identifiers: chr17:g.42985313G>A (hg19) ; chr17:g.44907945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907945G>A , CM000679.2:g.44907945G>A	GRCh38
NC_000017.10:g.42985313G>A , CM000679.1:g.42985313G>A	GRCh37
NC_000017.9:g.40340839G>A	NCBI36
NG_008401.1:g.12602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+119C>T	ENSP00000253408.5:n.1377+119C>T
ENST00000253408.10:c.1377+119C>T	ENSP00000253408.5:n.1377+119C>T
ENST00000441312.2:n.110+119C>T
ENST00000585543.6:n.410+119C>T
ENST00000586125.2:c.311C>T	ENSP00000467397.2:p.Pro104Leu
ENST00000588735.3:c.1257+119C>T MANE Select	ENSP00000466598.2:n.1257+119C>T
ENST00000589701.2:n.2164+119C>T
ENST00000591880.2:c.475C>T
ENST00000592065.2:n.625+119C>T
ENST00000638304.1:c.176+119C>T
ENST00000638400.1:c.92+119C>T
ENST00000638488.1:n.721+119C>T
ENST00000638618.1:c.912+119C>T	ENSP00000492832.1:n.912+119C>T
ENST00000638921.1:n.303C>T
ENST00000639042.1:c.229+119C>T
ENST00000639243.1:c.13+119C>T
ENST00000639277.1:c.1257+119C>T	ENSP00000492432.1:n.1257+119C>T
ENST00000639369.1:c.107+119C>T
ENST00000640545.1:c.63+119C>T	ENSP00000491735.1:n.63+119C>T
ENST00000640859.1:c.71+119C>T
ENST00000253408.9:c.1257+119C>T	ENSP00000253408.4:n.1257+119C>T
ENST00000585543.5:n.410+119C>T
ENST00000588735.1:c.135+119C>T	ENSP00000466598.1:n.135+119C>T
ENST00000589701.1:n.159+119C>T
ENST00000591880.1:c.242C>T	ENSP00000467530.1:p.Pro81Leu
ENST00000592065.1:n.51+119C>T
ENST00000592706.5:n.129+119C>T
NM_002055.4:c.1257+119C>T	NP_002046.1:n.1257+119C>T
NM_001363846.1:c.1377+119C>T	NP_001350775.1:n.1377+119C>T
XM_024450690.1:c.1581+119C>T	XP_024306458.1:n.1581+119C>T
XM_024450692.1:c.1461+119C>T	XP_024306460.1:n.1461+119C>T
NM_002055.5:c.1257+119C>T MANE Select	NP_002046.1:n.1257+119C>T
NM_001363846.2:c.1377+119C>T	NP_001350775.1:n.1377+119C>T