Canonical Allele Identifier: CA431509482

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311798-A-C
• MyVariant Identifiers: chr2:g.228176514A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311798A>C , CM000664.2:g.227311798A>C	GRCh38
NC_000002.11:g.228176514A>C , CM000664.1:g.228176514A>C	GRCh37
NC_000002.10:g.227884758A>C	NCBI36
NG_011591.1:g.152234A>C , LRG_230:g.152234A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2199A>C (COL4A3)
ENST00000682257.1:n.163A>C (COL4A3)
ENST00000682970.1:n.239A>C (COL4A3)
ENST00000683077.1:n.1880A>C (COL4A3)
ENST00000684413.1:n.2508A>C (COL4A3)
ENST00000684724.1:n.362A>C (COL4A3)
ENST00000396578.8:c.4941A>C (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1647=
ENST00000469504.2:c.734A>C (COL4A3)	ENSP00000493493.1:n.734A>C
ENST00000643388.1:c.454A>C (COL4A3)	ENSP00000495177.1:p.Ile152Leu
ENST00000396578.7:c.4941A>C (COL4A3)	ENSP00000379823.3:p.Pro1647=
ENST00000469504.1:n.449A>C (COL4A3)
NM_000091.4:c.4941A>C , LRG_230t1:c.4941A>C (COL4A3)	NP_000082.2:p.Pro1647=
NR_102371.1:n.48-6143T>G (MFF-DT)
XM_005246276.2:c.4768A>C (COL4A3)	XP_005246333.1:p.Ile1590Leu
XM_005246277.2:c.4836A>C (COL4A3)	XP_005246334.1:p.Pro1612=
XM_011510556.1:c.3702A>C (COL4A3)	XP_011508858.1:p.Pro1234=
XR_241280.2:n.4901A>C (COL4A3)
XM_005246277.3:c.4836A>C (COL4A3)	XP_005246334.1:p.Pro1612=
XM_011510556.2:c.3702A>C (COL4A3)	XP_011508858.1:p.Pro1234=
XR_241280.3:n.4901A>C (COL4A3)
NM_000091.5:c.4941A>C (COL4A3) MANE Select	NP_000082.2:p.Pro1647=