Canonical Allele Identifier: CA431506264

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228155497A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290781A>G , CM000664.2:g.227290781A>G	GRCh38
NC_000002.11:g.228155497A>G , CM000664.1:g.228155497A>G	GRCh37
NC_000002.10:g.227863741A>G	NCBI36
NG_011591.1:g.131217A>G , LRG_230:g.131217A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.3105A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1035=
ENST00000304990.8:c.216A>G (COL4A3)	ENSP00000302781.8:p.Pro72=
ENST00000396578.7:c.3105A>G (COL4A3)	ENSP00000379823.3:p.Pro1035=
ENST00000487633.1:n.266A>G (COL4A3)
NM_000091.4:c.3105A>G , LRG_230t1:c.3105A>G (COL4A3)	NP_000082.2:p.Pro1035=
NR_102371.1:n.244-8992T>C (MFF-DT)
XM_005246276.2:c.3105A>G (COL4A3)	XP_005246333.1:p.Pro1035=
XM_005246277.2:c.3000A>G (COL4A3)	XP_005246334.1:p.Pro1000=
XM_005246280.2:c.3105A>G (COL4A3)	XP_005246337.1:p.Pro1035=
XM_006712245.2:c.3105A>G (COL4A3)	XP_006712308.1:p.Pro1035=
XM_011510555.1:c.3105A>G (COL4A3)	XP_011508857.1:p.Pro1035=
XM_011510556.1:c.1866A>G (COL4A3)	XP_011508858.1:p.Pro622=
XR_241280.2:n.3243A>G (COL4A3)
XM_005246277.3:c.3000A>G (COL4A3)	XP_005246334.1:p.Pro1000=
XM_005246280.3:c.3105A>G (COL4A3)	XP_005246337.1:p.Pro1035=
XM_006712245.3:c.3105A>G (COL4A3)	XP_006712308.1:p.Pro1035=
XM_011510556.2:c.1866A>G (COL4A3)	XP_011508858.1:p.Pro622=
XM_017003295.1:c.3105A>G (COL4A3)	XP_016858784.1:p.Pro1035=
XR_001738601.1:n.3243A>G (COL4A3)
XR_241280.3:n.3243A>G (COL4A3)
NM_000091.5:c.3105A>G (COL4A3) MANE Select	NP_000082.2:p.Pro1035=