Canonical Allele Identifier: CA399837843
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44907892C>G , CM000679.2:g.44907892C>G GRCh38
NC_000017.10:g.42985260C>G , CM000679.1:g.42985260C>G GRCh37
NC_000017.9:g.40340786C>G NCBI36
NG_008401.1:g.12655G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253408.11:c.1377+172G>C ENSP00000253408.5:n.1377+172G>C
ENST00000253408.10:c.1377+172G>C ENSP00000253408.5:n.1377+172G>C
ENST00000441312.2:n.110+172G>C
ENST00000585543.6:n.410+172G>C
ENST00000586125.2:c.364G>C ENSP00000467397.2:p.Val122Leu
ENST00000588735.3:c.1257+172G>C MANE Select ENSP00000466598.2:n.1257+172G>C
ENST00000589701.2:n.2164+172G>C
ENST00000591880.2:c.528G>C
ENST00000592065.2:n.625+172G>C
ENST00000638304.1:c.176+172G>C
ENST00000638400.1:c.92+172G>C
ENST00000638488.1:n.721+172G>C
ENST00000638618.1:c.912+172G>C ENSP00000492832.1:n.912+172G>C
ENST00000638921.1:n.356G>C
ENST00000639042.1:c.229+172G>C
ENST00000639243.1:c.13+172G>C
ENST00000639277.1:c.1257+172G>C ENSP00000492432.1:n.1257+172G>C
ENST00000639369.1:c.107+172G>C
ENST00000640545.1:c.63+172G>C ENSP00000491735.1:n.63+172G>C
ENST00000640859.1:c.71+172G>C
ENST00000253408.9:c.1257+172G>C ENSP00000253408.4:n.1257+172G>C
ENST00000585543.5:n.410+172G>C
ENST00000588735.1:c.135+172G>C ENSP00000466598.1:n.135+172G>C
ENST00000589701.1:n.159+172G>C
ENST00000591880.1:c.295G>C ENSP00000467530.1:p.Val99Leu
ENST00000592065.1:n.51+172G>C
ENST00000592706.5:n.129+172G>C
NM_002055.4:c.1257+172G>C NP_002046.1:n.1257+172G>C
NM_001363846.1:c.1377+172G>C NP_001350775.1:n.1377+172G>C
XM_024450690.1:c.1581+172G>C XP_024306458.1:n.1581+172G>C
XM_024450692.1:c.1461+172G>C XP_024306460.1:n.1461+172G>C
NM_002055.5:c.1257+172G>C MANE Select NP_002046.1:n.1257+172G>C
NM_001363846.2:c.1377+172G>C NP_001350775.1:n.1377+172G>C