Canonical Allele Identifier: CA626225366

Gene: GFAP

Linked Data

• dbSNP Id: rs1455788370
• gnomAD v2: 17-42985614-T-C
• gnomAD v4: 17-44908246-T-C
• MyVariant Identifiers: chr17:g.42985614T>C (hg19) ; chr17:g.44908246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908246T>C , CM000679.2:g.44908246T>C	GRCh38
NC_000017.10:g.42985614T>C , CM000679.1:g.42985614T>C	GRCh37
NC_000017.9:g.40341140T>C	NCBI36
NG_008401.1:g.12301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-97A>G	ENSP00000253408.5:n.1292-97A>G
ENST00000253408.10:c.1292-97A>G	ENSP00000253408.5:n.1292-97A>G
ENST00000441312.2:n.25-97A>G
ENST00000585543.6:n.325-97A>G
ENST00000586125.2:c.107-97A>G	ENSP00000467397.2:n.107-97A>G
ENST00000588735.3:c.1172-97A>G MANE Select	ENSP00000466598.2:n.1172-97A>G
ENST00000589701.2:n.1982A>G
ENST00000591880.2:c.271-97A>G
ENST00000592065.2:n.443A>G
ENST00000638304.1:c.91-97A>G
ENST00000638400.1:c.7-97A>G
ENST00000638488.1:n.636-97A>G
ENST00000638618.1:c.827-97A>G	ENSP00000492832.1:n.827-97A>G
ENST00000638921.1:n.2A>G
ENST00000639042.1:c.144-97A>G
ENST00000639277.1:c.1172-97A>G	ENSP00000492432.1:n.1172-97A>G
ENST00000639369.1:c.22-97A>G
ENST00000640552.1:n.3554A>G
ENST00000253408.9:c.1172-97A>G	ENSP00000253408.4:n.1172-97A>G
ENST00000585543.5:n.325-97A>G
ENST00000586125.1:c.143-97A>G	ENSP00000467397.1:n.143-97A>G
ENST00000588640.5:n.552-97A>G
ENST00000588735.1:c.83-130A>G	ENSP00000466598.1:n.83-130A>G
ENST00000591880.1:c.38-97A>G	ENSP00000467530.1:n.38-97A>G
ENST00000592706.5:n.44-97A>G
NM_002055.4:c.1172-97A>G	NP_002046.1:n.1172-97A>G
NM_001363846.1:c.1292-97A>G	NP_001350775.1:n.1292-97A>G
XM_024450690.1:c.1496-97A>G	XP_024306458.1:n.1496-97A>G
XM_024450692.1:c.1376-97A>G	XP_024306460.1:n.1376-97A>G
NM_002055.5:c.1172-97A>G MANE Select	NP_002046.1:n.1172-97A>G
NM_001242376.2:c.*2223A>G	NP_001229305.1:n.*2223A>G
NM_001363846.2:c.1292-97A>G	NP_001350775.1:n.1292-97A>G