Canonical Allele Identifier: CA399838921

Gene: GFAP

Linked Data

• gnomAD v4: 17-44908097-G-C
• MyVariant Identifiers: chr17:g.42985465G>C (hg19) ; chr17:g.44908097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908097G>C , CM000679.2:g.44908097G>C	GRCh38
NC_000017.10:g.42985465G>C , CM000679.1:g.42985465G>C	GRCh37
NC_000017.9:g.40340991G>C	NCBI36
NG_008401.1:g.12450C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1344C>G	ENSP00000253408.5:p.Ile448Met
ENST00000253408.10:c.1344C>G	ENSP00000253408.5:p.Ile448Met
ENST00000441312.2:n.77C>G
ENST00000585543.6:n.377C>G
ENST00000586125.2:c.159C>G	ENSP00000467397.2:p.Ile53Met
ENST00000588735.3:c.1224C>G MANE Select	ENSP00000466598.2:p.Ile408Met
ENST00000589701.2:n.2131C>G
ENST00000591880.2:c.323C>G
ENST00000592065.2:n.592C>G
ENST00000638304.1:c.143C>G
ENST00000638400.1:c.59C>G
ENST00000638488.1:n.688C>G
ENST00000638618.1:c.879C>G	ENSP00000492832.1:p.Ile293Met
ENST00000638921.1:n.151C>G
ENST00000639042.1:c.196C>G
ENST00000639277.1:c.1224C>G	ENSP00000492432.1:p.Ile408Met
ENST00000639369.1:c.74C>G
ENST00000640545.1:c.30C>G	ENSP00000491735.1:p.Ile10Met
ENST00000640859.1:c.38C>G
ENST00000253408.9:c.1224C>G	ENSP00000253408.4:p.Ile408Met
ENST00000585543.5:n.377C>G
ENST00000588735.1:c.102C>G	ENSP00000466598.1:p.Ile34Met
ENST00000589701.1:n.126C>G
ENST00000591880.1:c.90C>G	ENSP00000467530.1:p.Ile30Met
ENST00000592065.1:n.18C>G
ENST00000592706.5:n.96C>G
NM_002055.4:c.1224C>G	NP_002046.1:p.Ile408Met
NM_001363846.1:c.1344C>G	NP_001350775.1:p.Ile448Met
XM_024450690.1:c.1548C>G	XP_024306458.1:p.Ile516Met
XM_024450692.1:c.1428C>G	XP_024306460.1:p.Ile476Met
NM_002055.5:c.1224C>G MANE Select	NP_002046.1:p.Ile408Met
NM_001363846.2:c.1344C>G	NP_001350775.1:p.Ile448Met