Canonical Allele Identifier: CA431509492

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176517A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311801A>G , CM000664.2:g.227311801A>G	GRCh38
NC_000002.11:g.228176517A>G , CM000664.1:g.228176517A>G	GRCh37
NC_000002.10:g.227884761A>G	NCBI36
NG_011591.1:g.152237A>G , LRG_230:g.152237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2202A>G (COL4A3)
ENST00000682257.1:n.166A>G (COL4A3)
ENST00000682970.1:n.242A>G (COL4A3)
ENST00000683077.1:n.1883A>G (COL4A3)
ENST00000684413.1:n.2511A>G (COL4A3)
ENST00000684724.1:n.365A>G (COL4A3)
ENST00000396578.8:c.4944A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1648=
ENST00000469504.2:c.737A>G (COL4A3)	ENSP00000493493.1:n.737A>G
ENST00000643388.1:c.457A>G (COL4A3)	ENSP00000495177.1:p.Asn153Asp
ENST00000396578.7:c.4944A>G (COL4A3)	ENSP00000379823.3:p.Ser1648=
ENST00000469504.1:n.452A>G (COL4A3)
NM_000091.4:c.4944A>G , LRG_230t1:c.4944A>G (COL4A3)	NP_000082.2:p.Ser1648=
NR_102371.1:n.48-6146T>C (MFF-DT)
XM_005246276.2:c.4771A>G (COL4A3)	XP_005246333.1:p.Asn1591Asp
XM_005246277.2:c.4839A>G (COL4A3)	XP_005246334.1:p.Ser1613=
XM_011510556.1:c.3705A>G (COL4A3)	XP_011508858.1:p.Ser1235=
XR_241280.2:n.4904A>G (COL4A3)
XM_005246277.3:c.4839A>G (COL4A3)	XP_005246334.1:p.Ser1613=
XM_011510556.2:c.3705A>G (COL4A3)	XP_011508858.1:p.Ser1235=
XR_241280.3:n.4904A>G (COL4A3)
NM_000091.5:c.4944A>G (COL4A3) MANE Select	NP_000082.2:p.Ser1648=