Canonical Allele Identifier: CA431509587

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 739082
• ClinVar RCV Id: RCV000915027
• dbSNP Id: rs1574846186
• gnomAD v4: 2-227311840-C-T
• MyVariant Identifiers: chr2:g.228176556C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311840C>T , CM000664.2:g.227311840C>T	GRCh38
NC_000002.11:g.228176556C>T , CM000664.1:g.228176556C>T	GRCh37
NC_000002.10:g.227884800C>T	NCBI36
NG_011591.1:g.152276C>T , LRG_230:g.152276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2241C>T (COL4A3)
ENST00000682257.1:n.205C>T (COL4A3)
ENST00000682970.1:n.281C>T (COL4A3)
ENST00000683077.1:n.1922C>T (COL4A3)
ENST00000684413.1:n.2550C>T (COL4A3)
ENST00000684724.1:n.404C>T (COL4A3)
ENST00000396578.8:c.4983C>T (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1661=
ENST00000469504.2:c.776C>T (COL4A3)	ENSP00000493493.1:n.776C>T
ENST00000643388.1:c.496C>T (COL4A3)	ENSP00000495177.1:p.Leu166=
ENST00000396578.7:c.4983C>T (COL4A3)	ENSP00000379823.3:p.Arg1661=
ENST00000469504.1:n.491C>T (COL4A3)
NM_000091.4:c.4983C>T , LRG_230t1:c.4983C>T (COL4A3)	NP_000082.2:p.Arg1661=
NR_102371.1:n.48-6185G>A (MFF-DT)
XM_005246276.2:c.4810C>T (COL4A3)	XP_005246333.1:p.Leu1604=
XM_005246277.2:c.4878C>T (COL4A3)	XP_005246334.1:p.Arg1626=
XM_011510556.1:c.3744C>T (COL4A3)	XP_011508858.1:p.Arg1248=
XR_241280.2:n.4943C>T (COL4A3)
XM_005246277.3:c.4878C>T (COL4A3)	XP_005246334.1:p.Arg1626=
XM_011510556.2:c.3744C>T (COL4A3)	XP_011508858.1:p.Arg1248=
XR_241280.3:n.4943C>T (COL4A3)
NM_000091.5:c.4983C>T (COL4A3) MANE Select	NP_000082.2:p.Arg1661=