Canonical Allele Identifier: CA399845815

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990733C>G (hg19) ; chr17:g.44913365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913365C>G , CM000679.2:g.44913365C>G	GRCh38
NC_000017.10:g.42990733C>G , CM000679.1:g.42990733C>G	GRCh37
NC_000017.9:g.40346259C>G	NCBI36
NG_008401.1:g.7182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.684G>C	ENSP00000253408.5:p.Lys228Asn
ENST00000435360.8:c.684G>C	ENSP00000403962.1:p.Lys228Asn
ENST00000253408.10:c.684G>C	ENSP00000253408.5:p.Lys228Asn
ENST00000435360.7:c.684G>C	ENSP00000403962.1:p.Lys228Asn
ENST00000586127.6:n.1213G>C
ENST00000586793.6:c.684G>C	ENSP00000468500.2:p.Lys228Asn
ENST00000587997.6:n.160G>C
ENST00000588735.3:c.684G>C MANE Select	ENSP00000466598.2:p.Lys228Asn
ENST00000591327.2:n.1838G>C
ENST00000592320.6:c.618+363G>C	ENSP00000465320.1:n.618+363G>C
ENST00000638281.1:c.684G>C	ENSP00000491088.1:p.Lys228Asn
ENST00000638618.1:c.339G>C	ENSP00000492832.1:p.Lys113Asn
ENST00000639277.1:c.684G>C	ENSP00000492432.1:p.Lys228Asn
ENST00000640552.1:n.698G>C
ENST00000253408.9:c.684G>C	ENSP00000253408.4:p.Lys228Asn
ENST00000376990.8:c.*83G>C	ENSP00000366189.4:n.*83G>C
ENST00000435360.6:c.684G>C	ENSP00000403962.1:p.Lys228Asn
ENST00000585728.5:c.*328G>C	ENSP00000465208.1:n.*328G>C
ENST00000586127.5:c.23G>C	ENSP00000464795.1:p.Ser8Thr
ENST00000586793.5:c.684G>C	ENSP00000468500.1:p.Lys228Asn
ENST00000587997.5:c.160G>C
ENST00000588316.1:c.588G>C	ENSP00000465629.1:p.Lys196Asn
ENST00000588735.1:c.82+2040G>C	ENSP00000466598.1:n.82+2040G>C
ENST00000588957.5:c.-49G>C	ENSP00000465565.1:n.-49G>C
ENST00000590922.1:n.334G>C
ENST00000592320.5:c.618+363G>C	ENSP00000465320.1:n.618+363G>C
NM_001131019.2:c.684G>C	NP_001124491.1:p.Lys228Asn
NM_001242376.1:c.684G>C	NP_001229305.1:p.Lys228Asn
NM_002055.4:c.684G>C	NP_002046.1:p.Lys228Asn
NM_001363846.1:c.684G>C	NP_001350775.1:p.Lys228Asn
XM_024450690.1:c.888G>C	XP_024306458.1:p.Lys296Asn
XM_024450691.1:c.888G>C	XP_024306459.1:p.Lys296Asn
XM_024450692.1:c.888G>C	XP_024306460.1:p.Lys296Asn
XM_024450693.1:c.888G>C	XP_024306461.1:p.Lys296Asn
NM_002055.5:c.684G>C MANE Select	NP_002046.1:p.Lys228Asn
NM_001131019.3:c.684G>C	NP_001124491.1:p.Lys228Asn
NM_001242376.2:c.684G>C	NP_001229305.1:p.Lys228Asn
NM_001242376.3:c.684G>C	NP_001229305.1:p.Lys228Asn
NM_001363846.2:c.684G>C	NP_001350775.1:p.Lys228Asn