Canonical Allele Identifier: CA8608587

Gene: GFAP

Linked Data

• dbSNP Id: rs757158635
• ExAC: 17:42985269 C / G
• gnomAD v2: 17-42985269-C-G
• gnomAD v4: 17-44907901-C-G
• MyVariant Identifiers: chr17:g.42985269C>G (hg19) ; chr17:g.44907901C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907901C>G , CM000679.2:g.44907901C>G	GRCh38
NC_000017.10:g.42985269C>G , CM000679.1:g.42985269C>G	GRCh37
NC_000017.9:g.40340795C>G	NCBI36
NG_008401.1:g.12646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+163G>C	ENSP00000253408.5:n.1377+163G>C
ENST00000253408.10:c.1377+163G>C	ENSP00000253408.5:n.1377+163G>C
ENST00000441312.2:n.110+163G>C
ENST00000585543.6:n.410+163G>C
ENST00000586125.2:c.355G>C	ENSP00000467397.2:p.Val119Leu
ENST00000588735.3:c.1257+163G>C MANE Select	ENSP00000466598.2:n.1257+163G>C
ENST00000589701.2:n.2164+163G>C
ENST00000591880.2:c.519G>C
ENST00000592065.2:n.625+163G>C
ENST00000638304.1:c.176+163G>C
ENST00000638400.1:c.92+163G>C
ENST00000638488.1:n.721+163G>C
ENST00000638618.1:c.912+163G>C	ENSP00000492832.1:n.912+163G>C
ENST00000638921.1:n.347G>C
ENST00000639042.1:c.229+163G>C
ENST00000639243.1:c.13+163G>C
ENST00000639277.1:c.1257+163G>C	ENSP00000492432.1:n.1257+163G>C
ENST00000639369.1:c.107+163G>C
ENST00000640545.1:c.63+163G>C	ENSP00000491735.1:n.63+163G>C
ENST00000640859.1:c.71+163G>C
ENST00000253408.9:c.1257+163G>C	ENSP00000253408.4:n.1257+163G>C
ENST00000585543.5:n.410+163G>C
ENST00000588735.1:c.135+163G>C	ENSP00000466598.1:n.135+163G>C
ENST00000589701.1:n.159+163G>C
ENST00000591880.1:c.286G>C	ENSP00000467530.1:p.Val96Leu
ENST00000592065.1:n.51+163G>C
ENST00000592706.5:n.129+163G>C
NM_002055.4:c.1257+163G>C	NP_002046.1:n.1257+163G>C
NM_001363846.1:c.1377+163G>C	NP_001350775.1:n.1377+163G>C
XM_024450690.1:c.1581+163G>C	XP_024306458.1:n.1581+163G>C
XM_024450692.1:c.1461+163G>C	XP_024306460.1:n.1461+163G>C
NM_002055.5:c.1257+163G>C MANE Select	NP_002046.1:n.1257+163G>C
NM_001363846.2:c.1377+163G>C	NP_001350775.1:n.1377+163G>C