Canonical Allele Identifier: CA350866813

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs1310243946
• gnomAD v2: 2-228176553-T-A
• MyVariant Identifiers: chr2:g.228176553T>A (hg19) ; chr2:g.227311837T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311837T>A , CM000664.2:g.227311837T>A	GRCh38
NC_000002.11:g.228176553T>A , CM000664.1:g.228176553T>A	GRCh37
NC_000002.10:g.227884797T>A	NCBI36
NG_011591.1:g.152273T>A , LRG_230:g.152273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2238T>A (COL4A3)
ENST00000682257.1:n.202T>A (COL4A3)
ENST00000682970.1:n.278T>A (COL4A3)
ENST00000683077.1:n.1919T>A (COL4A3)
ENST00000684413.1:n.2547T>A (COL4A3)
ENST00000684724.1:n.401T>A (COL4A3)
ENST00000396578.8:c.4980T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Ser1660Arg
ENST00000469504.2:c.773T>A (COL4A3)	ENSP00000493493.1:n.773T>A
ENST00000643388.1:c.493T>A (COL4A3)	ENSP00000495177.1:p.Ser165Thr
ENST00000396578.7:c.4980T>A (COL4A3)	ENSP00000379823.3:p.Ser1660Arg
ENST00000469504.1:n.488T>A (COL4A3)
NM_000091.4:c.4980T>A , LRG_230t1:c.4980T>A (COL4A3)	NP_000082.2:p.Ser1660Arg
NR_102371.1:n.48-6182A>T (MFF-DT)
XM_005246276.2:c.4807T>A (COL4A3)	XP_005246333.1:p.Ser1603Thr
XM_005246277.2:c.4875T>A (COL4A3)	XP_005246334.1:p.Ser1625Arg
XM_011510556.1:c.3741T>A (COL4A3)	XP_011508858.1:p.Ser1247Arg
XR_241280.2:n.4940T>A (COL4A3)
XM_005246277.3:c.4875T>A (COL4A3)	XP_005246334.1:p.Ser1625Arg
XM_011510556.2:c.3741T>A (COL4A3)	XP_011508858.1:p.Ser1247Arg
XR_241280.3:n.4940T>A (COL4A3)
NM_000091.5:c.4980T>A (COL4A3) MANE Select	NP_000082.2:p.Ser1660Arg