Canonical Allele Identifier: CA2147595

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs377150513
• ExAC: 2:228173920 A / G
• gnomAD v2: 2-228173920-A-G
• MyVariant Identifiers: chr2:g.228173920A>G (hg19) ; chr2:g.227309204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227309204A>G , CM000664.2:g.227309204A>G	GRCh38
NC_000002.11:g.228173920A>G , CM000664.1:g.228173920A>G	GRCh37
NC_000002.10:g.227882164A>G	NCBI36
NG_011591.1:g.149640A>G , LRG_230:g.149640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1899A>G (COL4A3)
ENST00000682257.1:n.36A>G (COL4A3)
ENST00000683077.1:n.123A>G (COL4A3)
ENST00000684413.1:n.2208A>G (COL4A3)
ENST00000684724.1:n.62A>G (COL4A3)
ENST00000396578.8:c.4641A>G (COL4A3) MANE Select	ENSP00000379823.3:p.Arg1547=
ENST00000469504.2:c.434A>G (COL4A3)	ENSP00000493493.1:p.Asp145Gly
ENST00000643388.1:c.327A>G (COL4A3)	ENSP00000495177.1:p.Arg109=
ENST00000396578.7:c.4641A>G (COL4A3)	ENSP00000379823.3:p.Arg1547=
ENST00000469504.1:n.149A>G (COL4A3)
NM_000091.4:c.4641A>G , LRG_230t1:c.4641A>G (COL4A3)	NP_000082.2:p.Arg1547=
NR_102371.1:n.48-3549T>C (MFF-DT)
XM_005246276.2:c.4641A>G (COL4A3)	XP_005246333.1:p.Arg1547=
XM_005246277.2:c.4536A>G (COL4A3)	XP_005246334.1:p.Arg1512=
XM_011510555.1:c.4641A>G (COL4A3)	XP_011508857.1:p.Arg1547=
XM_011510556.1:c.3402A>G (COL4A3)	XP_011508858.1:p.Arg1134=
XR_241280.2:n.4601A>G (COL4A3)
XM_005246277.3:c.4536A>G (COL4A3)	XP_005246334.1:p.Arg1512=
XM_011510556.2:c.3402A>G (COL4A3)	XP_011508858.1:p.Arg1134=
XR_241280.3:n.4601A>G (COL4A3)
NM_000091.5:c.4641A>G (COL4A3) MANE Select	NP_000082.2:p.Arg1547=