Canonical Allele Identifier: CA399838223

Gene: GFAP

Linked Data

• gnomAD v4: 17-44907959-T-G
• MyVariant Identifiers: chr17:g.42985327T>G (hg19) ; chr17:g.44907959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907959T>G , CM000679.2:g.44907959T>G	GRCh38
NC_000017.10:g.42985327T>G , CM000679.1:g.42985327T>G	GRCh37
NC_000017.9:g.40340853T>G	NCBI36
NG_008401.1:g.12588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+105A>C	ENSP00000253408.5:n.1377+105A>C
ENST00000253408.10:c.1377+105A>C	ENSP00000253408.5:n.1377+105A>C
ENST00000441312.2:n.110+105A>C
ENST00000585543.6:n.410+105A>C
ENST00000586125.2:c.297A>C	ENSP00000467397.2:p.Gln99His
ENST00000588735.3:c.1257+105A>C MANE Select	ENSP00000466598.2:n.1257+105A>C
ENST00000589701.2:n.2164+105A>C
ENST00000591880.2:c.461A>C
ENST00000592065.2:n.625+105A>C
ENST00000638304.1:c.176+105A>C
ENST00000638400.1:c.92+105A>C
ENST00000638488.1:n.721+105A>C
ENST00000638618.1:c.912+105A>C	ENSP00000492832.1:n.912+105A>C
ENST00000638921.1:n.289A>C
ENST00000639042.1:c.229+105A>C
ENST00000639243.1:c.13+105A>C
ENST00000639277.1:c.1257+105A>C	ENSP00000492432.1:n.1257+105A>C
ENST00000639369.1:c.107+105A>C
ENST00000640545.1:c.63+105A>C	ENSP00000491735.1:n.63+105A>C
ENST00000640859.1:c.71+105A>C
ENST00000253408.9:c.1257+105A>C	ENSP00000253408.4:n.1257+105A>C
ENST00000585543.5:n.410+105A>C
ENST00000588735.1:c.135+105A>C	ENSP00000466598.1:n.135+105A>C
ENST00000589701.1:n.159+105A>C
ENST00000591880.1:c.228A>C	ENSP00000467530.1:p.Gln76His
ENST00000592065.1:n.51+105A>C
ENST00000592706.5:n.129+105A>C
NM_002055.4:c.1257+105A>C	NP_002046.1:n.1257+105A>C
NM_001363846.1:c.1377+105A>C	NP_001350775.1:n.1377+105A>C
XM_024450690.1:c.1581+105A>C	XP_024306458.1:n.1581+105A>C
XM_024450692.1:c.1461+105A>C	XP_024306460.1:n.1461+105A>C
NM_002055.5:c.1257+105A>C MANE Select	NP_002046.1:n.1257+105A>C
NM_001363846.2:c.1377+105A>C	NP_001350775.1:n.1377+105A>C