Canonical Allele Identifier: CA350866839

Gene: COL4A3 MFF-DT

Linked Data

• MyVariant Identifiers: chr2:g.228176564T>A (hg19) ; chr2:g.227311848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311848T>A , CM000664.2:g.227311848T>A	GRCh38
NC_000002.11:g.228176564T>A , CM000664.1:g.228176564T>A	GRCh37
NC_000002.10:g.227884808T>A	NCBI36
NG_011591.1:g.152284T>A , LRG_230:g.152284T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.2249T>A (COL4A3)
ENST00000682257.1:n.213T>A (COL4A3)
ENST00000682970.1:n.289T>A (COL4A3)
ENST00000683077.1:n.1930T>A (COL4A3)
ENST00000684413.1:n.2558T>A (COL4A3)
ENST00000684724.1:n.412T>A (COL4A3)
ENST00000396578.8:c.4991T>A (COL4A3) MANE Select	ENSP00000379823.3:p.Val1664Glu
ENST00000469504.2:c.784T>A (COL4A3)	ENSP00000493493.1:n.784T>A
ENST00000643388.1:c.504T>A (COL4A3)	ENSP00000495177.1:p.Gly168=
ENST00000396578.7:c.4991T>A (COL4A3)	ENSP00000379823.3:p.Val1664Glu
ENST00000469504.1:n.499T>A (COL4A3)
NM_000091.4:c.4991T>A , LRG_230t1:c.4991T>A (COL4A3)	NP_000082.2:p.Val1664Glu
NR_102371.1:n.48-6193A>T (MFF-DT)
XM_005246276.2:c.4818T>A (COL4A3)	XP_005246333.1:p.Gly1606=
XM_005246277.2:c.4886T>A (COL4A3)	XP_005246334.1:p.Val1629Glu
XM_011510556.1:c.3752T>A (COL4A3)	XP_011508858.1:p.Val1251Glu
XR_241280.2:n.4951T>A (COL4A3)
XM_005246277.3:c.4886T>A (COL4A3)	XP_005246334.1:p.Val1629Glu
XM_011510556.2:c.3752T>A (COL4A3)	XP_011508858.1:p.Val1251Glu
XR_241280.3:n.4951T>A (COL4A3)
NM_000091.5:c.4991T>A (COL4A3) MANE Select	NP_000082.2:p.Val1664Glu